Asian J Surg. 2024 Mar 16:S1015-9584(24)00448-2. doi: 10.1016/j.asjsur.2024.03.021. Online ahead of print.
NO ABSTRACT
PMID:38494351 | DOI:10.1016/j.asjsur.2024.03.021
13660 items (13660 unread) in 74 feeds
Asian J Surg. 2024 Mar 16:S1015-9584(24)00448-2. doi: 10.1016/j.asjsur.2024.03.021. Online ahead of print.
NO ABSTRACT
PMID:38494351 | DOI:10.1016/j.asjsur.2024.03.021
Hum Immunol. 2024 Mar 15:110775. doi: 10.1016/j.humimm.2024.110775. Online ahead of print.
ABSTRACT
OBJECTIVE: Natural killer cells (NK) acts a central player of the immune system in liver cirrhosis. The aim of this study was to examine the expression of activating intra-hepatic NK cell group 2D (NKG2D) in patients with chronic hepatitis B (CHB) and analyzed the correlation between NKG2D expression and prognosis of liver cirrhosis in these patients.
METHODS: This was a cross-section study. Subjects with liver biopsy or sponge hemangioma surgery were included. The primary outcome was the NKG2D expression on intra-hepatic NK cells and their subtype cells in patients with CHB-related liver cirrhosis. Subsequently, the correlation of expression of NKG2D and clinical characteristic indicators were assayed RESULTS: Among 38 subjects, 11 (28.95%) normal liver sections adjacent the sponge hemangioma (healthy group) were collected during surgery, and 27 (71.05%) CHB-cirrhosis tissues (Cirrhosis group) were preserved after liver biopsy. Compared with healthy group, sections from cirrhosis group revealed more severe inflammation and collagen deposition and lower NKG2D expression in hepatic NK cells. The proportion of hepatic NK cells and the mean fluorescence intensity (MFI) of NKG2D on hepatic NK cells showed a positive correlation with serum albumin (Alb) level, platelet (Plt) count. Moreover, they had a significantly negative correlation with patient prothrombin time (PT), international standardized ratio (INR), the sirius red positive stained area and fibrosis stages.
CONCLUSIONS: Lower NKG2D expression in intra-hepatic NK cells may be predictive of poorer prognosis of CHB patients with cirrhosis.
PMID:38493049 | DOI:10.1016/j.humimm.2024.110775
Eur Spine J. 2024 Mar 15. doi: 10.1007/s00586-024-08201-0. Online ahead of print.
ABSTRACT
PURPOSE: Preoperative elastoplasty could be an alternative strategy for treating aggressive vertebral hemangiomas (VHs) in frail patients needing for spinal cord decompression, combining the advantages of embolization and vertebroplasty.
METHODS: Three elderly patients with spinal cord compression from thoracic aggressive VHs underwent XperCT-guided percutaneous injection of silicone (VK100), filling the whole affected vertebra, followed by a decompressive laminectomy. At 12-months follow-up no recurrences, vertebral collapse or segmental kyphosis were noted at the CT scans, with patients reporting an improvement of preoperative neurological deficits, VAS and Smiley-Webster pain scale (SWPS) parameters.
RESULTS: With its elastic modulus, non-exothermic hardening, and lower viscosity than PMMA, VK100 allowed a preoperative augmentation of the affected vertebral body, pedicles, and laminae without complications, with a controlled silicone delivery even in part of VH's epidural components thanks to XperCT-guidance.
CONCLUSION: When facing highly bony erosive VH encroaching the spinal canal, VK100 combines the advantages of embolization and vertebroplasty especially in elderly patients, permeating the whole VH's angioarchitecture, significantly reducing tumor.
PMID:38491218 | DOI:10.1007/s00586-024-08201-0
J Biol Eng. 2024 Mar 14;18(1):21. doi: 10.1186/s13036-024-00417-4.
ABSTRACT
BACKGROUND: Kaposiform hemangioendothelioma (KHE) is a rare intermediate vascular tumor with unclear pathogenesis. Recently, three dimensional (3D) cell spheroids and organoids have played an indispensable role in the study of many diseases, such as infantile hemangioma and non-involuting congenital hemangiomas. However, few research on KHE are based on the 3D model. This study aims to evaluate the 3D superiority, the similarity with KHE and the ability of drug evaluation of EOMA spheroids as an in vitro 3D KHE model.
RESULTS: After two days, relatively uniform morphology and high viability of EOMA spheroids were generated by the rotating cell culture system (RCCS). Through transcriptome analysis, compared with 2D EOMA cells, focal adhesion-related genes such as Itgb4, Flt1, VEGFC, TNXB, LAMA3, VWF, and VEGFD were upregulated in EOMA spheroids. Meanwhile, the EOMA spheroids injected into the subcutaneous showed more obvious KMP than 2D EOMA cells. Furthermore, EOMA spheroids possessed the similar characteristics to the KHE tissues and subcutaneous tumors, such as diagnostic markers (CD31 and LYVE-1), cell proliferation (Ki67), hypoxia (HIF-1α) and cell adhesion (E-cadherin and N-cadherin). Based on the EOMA spheroid model, we discovered that sirolimus, the first-line drug for treating KHE, could inhibit EOMA cell proliferation and downregulate the VEGFC expression. Through the extra addition of VEGFC, the effect of sirolimus on EOMA spheroid could be weakened.
CONCLUSION: With a high degree of similarity of the KHE, 3D EOMA spheroids generated by the RCCS can be used as a in vitro model for basic researches of KHE, generating subcutaneous tumors and drug screening.
PMID:38486263 | PMC:PMC10941415 | DOI:10.1186/s13036-024-00417-4
Exp Dermatol. 2024 Mar;33(3):e15053. doi: 10.1111/exd.15053.
NO ABSTRACT
PMID:38483151 | DOI:10.1111/exd.15053
Clin Neurol Neurosurg. 2024 Mar;238:108175. doi: 10.1016/j.clineuro.2024.108175. Epub 2024 Feb 16.
ABSTRACT
INTRODUCTION: Ultrasonography (US) is used as a real-time dynamic imaging modality during neurosurgery. A novel Doppler US technique, Superb Microvascular Imaging (SMI), can be used to visualize low-velocity flow of small vessels at high resolution with high frame rates. We visualized vessel flow using this US SMI technique and contrast agent during cerebrovascular surgery.
METHODS: Forty-three patients with an unruptured cerebral aneurysm (control), ischemic and hemorrhagic moyamoya disease, carotid artery stenosis, hemangioblastoma, severe stenosis of the middle cerebral artery, venous angioma, and intracerebral hemorrhage (ICH) underwent neurosurgery with US SMI monitoring using a contrast agent. The diameter, length, and number of penetrating vessels were analyzed in patients with an unruptured cerebral aneurysm (control), moyamoya disease, and ICH.
RESULTS: Diameter and length of cerebral penetrating vessels were significantly increased in patients with moyamoya disease and ICH compared to control patients. The number of penetrating vessels was increased in moyamoya disease patients compared to control and ICH patients. In hemorrhagic moyamoya disease, flow in the penetrating vessels originated from a deep periventricular point and extended to the cerebral surface. Pulsatile cerebral aneurysms during clipping surgery and carotid artery stenosis during carotid endarterectomy were easily identified by SMI. Drastically increased vessel flow in patients with a hemangioblastoma or a venous angioma was observed.
CONCLUSION: Using the US SMI technique and contrast agent, we obtained useful flow information of the vascular disease structure and intracerebral deep small vessels during cerebrovascular surgery. Further quantitative analysis will be informative and helpful for cerebrovascular surgery.
PMID:38428059 | DOI:10.1016/j.clineuro.2024.108175
Pediatr Radiol. 2024 Mar 14. doi: 10.1007/s00247-024-05891-y. Online ahead of print.
ABSTRACT
Pediatric neoplastic extraocular soft-tissue lesions in the orbit are uncommon. Early multimodality imaging work-up and recognition of the key imaging features of these lesions allow narrowing of the differential diagnoses in order to direct timely management. In this paper, the authors present a multimodality approach to the imaging work-up of these lesions and highlight the use of ocular ultrasound as a first imaging modality where appropriate. We will discuss vascular neoplasms (congenital hemangioma, infantile hemangioma), optic nerve lesions (meningioma, optic nerve glioma), and other neoplastic lesions (plexiform neurofibroma, teratoma, chloroma, rhabdomyosarcoma, infantile fibrosarcoma, schwannoma).
PMID:38480589 | DOI:10.1007/s00247-024-05891-y
Eur J Cancer. 2024 Mar 11;202:114003. doi: 10.1016/j.ejca.2024.114003. Online ahead of print.
ABSTRACT
Developing new drugs or generating evidence for existing drugs in new indications for ultra-rare cancers is complex and carries a high-risk of failure. This gets even harder in ultra-rare tumours, which have an annual incidence of 1 per 1,000,000 population or less. Here, we illustrate the problem of adequate evidence generation in ultra-rare tumours, using Alveolar Soft-Part Sarcomas (ASPS) - an ultra-rare sarcoma newly diagnosed in approximately 60 persons a year in the European Union - as an exemplar case showing challenges in development despite being potentially relevant for classes of agents. We discuss some possible approaches for addressing such challenges, especially focussing on constructive collaboration between academic groups, patients and advocates, drug manufacturers, and regulators to optimise drug development in ultra-rare cancers. This article, written by various European stakeholders, proposes a way forward to ultimately get better options for patients with ultra-rare cancers.
PMID:38479120 | DOI:10.1016/j.ejca.2024.114003
J Cardiothorac Surg. 2024 Mar 12;19(1):118. doi: 10.1186/s13019-024-02602-4.
ABSTRACT
BACKGROUND: Epithelioid hemangioendothelioma (EHE) is a rare malignancy of vascular origin which can be primarily be seen in various tissues. EHE originating from the pleura is an even more uncommon subtype which may mimic mesothelioma and pleural carcinomatosis. The prognosis of pleural EHE is poor and there is no consensus on the optimal therapeutic approach.
CASE PRESENTATION: A 39-year-old middle-eastern female presented with progressive dyspnea and left shoulder discomfort. Chest computed tomography scan revealed a left side pleural effusion and pleural thickening. Pleuroscopy was done and biopsies were taken which were positive for CD31, CD34, CK, factor 8-R-antigen, and vimentin. Patient was diagnosed with pleural epithelioid hemangioendothelioma (PEHE) and chemotherapy was started and underwent extrapleural pneumonectomy 7 months later. Unfortunately, the patient passed away 10 months after diagnosis due to disease complications.
CONCLUSIONS: Once PEHE is suspected in histology it can be confirmed with immunohistochemistry. Chemotherapy, surgery or a combination of both is currently used as the treatment but the standard treatment remains a question.
PMID:38475834 | PMC:PMC10935829 | DOI:10.1186/s13019-024-02602-4
BMJ Case Rep. 2024 Mar 12;17(3):e259763. doi: 10.1136/bcr-2024-259763.
ABSTRACT
Klippel-Trenaunay syndrome (KTS) is a rare, congenital disorder typically emerging in early infancy or childhood. The classic presentation of KTS is distinguished by a triad of clinical features: a port-wine stain, early-onset varicosities and limb overgrowth. However, a notable variant of KTS has been documented, characterised by limb shortening rather than lengthening, occasionally referred to as 'inverse KTS'. This report details two cases that display this unusual presentation-both patients had classical features of port-wine stain and varicose veins but both experienced shortening of the affected limb. Whether these cases represent a variant of KTS or a new clinical syndrome altogether is uncertain. They however offer valuable insights into the nuances and breadth of clinical manifestations associated with this syndrome.
PMID:38471707 | PMC:PMC10936486 | DOI:10.1136/bcr-2024-259763
Healthcare (Basel). 2024 Feb 29;12(5):573. doi: 10.3390/healthcare12050573.
ABSTRACT
(1) Background: Hereditary fructose intolerance (HFI) is a rare autosomal recessive metabolic disorder resulting from aldolase B deficiency, requiring a fructose, sorbitol and sucrose (FSS)-free diet. Limited information exists on the relationship between pregnancy outcomes and HFI. This study aims to analyze pregnancy-related factors in a cohort of thirty Spanish women, with twenty-three being carriers and seven being HFI-affected (45 pregnancies). (2) Methods: A descriptive, cross-sectional and retrospective study utilized an anonymous questionnaire. (3) Results: Findings encompassed physical and emotional states, nutritional habits, pathology development and baby information. Notable results include improved physical and emotional states compared to the general population, with conventional analyses mostly within normal ranges. Persistent issues after pregnancy included hepatic steatosis, liver adenomas and hemangiomas. Carrier mothers' babies exhibited higher weight than those of patient mothers, while the weights of carrier children born with HFI were similar to disease-affected children. (4) Conclusions: Pregnant women with HFI did not significantly differ in physical and emotional states, except for nausea, vomiting, and cravings. Post-pregnancy, HFI patients and carriers exhibited persistent hepatic issues. Significantly, babies born to HFI-affected mothers had lower weights. This study sheds light on pregnancy outcomes in HFI, emphasizing potential complications and the need for ongoing monitoring and care.
PMID:38470684 | PMC:PMC10930640 | DOI:10.3390/healthcare12050573
Indian Pediatr. 2024 Mar 15;61(3):237-242.
ABSTRACT
OBJECTIVE: To evaluate the utility of color Doppler ultrasonography in assessing infantile hemangioma response to treatment with oral propranolol.
METHODS: A prospective study was conducted between January, 2016 and December, 2022, wherein children with symptomatic (ulceration, bleeding, pain and scarring) infantile hemangioma were given oral propranol (2 mg/kg per day in three divided doses) as outpatient therapy. The clinical response was assessed three months post-initiation of treatment (intermediate clinical response) and three months post-completion of treatment (final clinical response, FCR). The primary outcome measurement was a clinical and radiological response (resistivity index (RI), pulsatility index (PI) and peak systolic velocity) to treatment. The secondary outcomes assessed were the complications related to treatment.
RESULTS: Out of 601 patients who were started on propranolol, 99 developed severe adverse effects and were excluded from analysis. At FCR assessment, out of 502 participants, 64.3% (n = 323) showed excellent response, 17.7% (n = 89) showed partial, and 17.9% (n = 90) were non-responders. A significant increase in RI and PI values was noted in all children following propranolol treatment for six months. An increase > 7.5% in RI could identify responders with 92% sensitivity, 91% specificity and area under the curve (AUC) of 0.963. An increase of > 11.5% in PI could identify responders with 86% sensitivity, 91% specificity and AUC of 0.896. Patients initially showing no response but later becoming excellent responders had significantly higher RI and PI values.
CONCLUSIONS: Color Doppler ultrasonography is a valuable tool in predicting the treatment outcome of infantile hemangioma using propranolol.
PMID:38469839
Rev Esp Enferm Dig. 2024 Mar 12. doi: 10.17235/reed.2024.10298/2024. Online ahead of print.
ABSTRACT
Inflammatory bowel disease (IBD) diagnosis requires clinical, laboratory, endoscopic and histologic findings, and sometimes it can become a challenge. An exhaustive differential diagnosis with infectious disease, immunodeficiencies, hematologic, neoplastic, or vascular diseases must be made1, since prognosis and treatment vary depending on etiology. We present the case of a 62-year-old man, with no personal history of interest, who undergoes a colonoscopy after a positive colorectal cancer screening test (fecal occult blood test). In the endoscopy, a continuous involvement was observed from the anal margin to the splenic flexure, with erythematous mucosa, loss of vascular pattern, and alternating scar areas with neovessels. Histopathological findings were compatible with diffuse capillary hemangioma. Since no symptoms of gastrointestinal (GI) bleeding nor anemia were referred, periodic surveillance was carried out.
PMID:38469795 | DOI:10.17235/reed.2024.10298/2024
Front Oncol. 2024 Feb 26;14:1367237. doi: 10.3389/fonc.2024.1367237. eCollection 2024.
ABSTRACT
BACKGROUND: Epithelioid hemangioendothelioma (EHE) is an ultra-rare, vascular sarcoma with clinical presentation ranging from an indolent to an aggressive form. Over 50% of patients present with metastatic disease, requiring systemic therapy, although no systemic therapies are specifically approved for EHE. Retrospective evidence supports the activity of mTOR inhibitors (e.g. sirolimus), although available only off-label. EHE patients and advocates are therefore working to support approval of effective treatments by collecting data on patient perspectives and experiences.
MATERIALS AND METHODS: In February 2023, the EHE Rare Cancer Charity (UK) and The EHE Foundation (US), with other advocates, conducted a survey of perspectives and experiences of EHE patients regarding the use and accessibility of sirolimus. The survey consisted of 20 questions designed for individuals undergoing treatment, those who had been treated, or had never been treated with the drug. Widely promoted within the patient community, the online survey categorized patients into three cohorts for the analysis: liver transplant patients, non-transplant patients who had ever taken sirolimus and sirolimus-naïve non-transplant patients.
RESULTS: The survey evaluated data from 129 patient responses from 21 countries, mostly from USA, UK, Australia, and Canada (70%). The liver transplant, sirolimus and non-sirolimus cohorts were 16%, 25% and 59%, respectively. In the sirolimus group 66% reported treatment durations exceeding one year, with 16% exceeding five years, indicating the drug's efficacy. In the non-sirolimus group, the drug was not available for 42% and for 11% sirolimus was available but not selected for treatment because of its off-label status. Overall, 87% of all patients across all cohorts expressed the importance of the drug's availability as hugely or very important.
CONCLUSION: The survey responses highlight the activity of sirolimus for EHE and the importance of securing a label extension for the drug delivering equitable access to this treatment for patients.
PMID:38469238 | PMC:PMC10925709 | DOI:10.3389/fonc.2024.1367237
Surg Neurol Int. 2024 Feb 23;15:55. doi: 10.25259/SNI_3_2024. eCollection 2024.
ABSTRACT
BACKGROUND: Composite hemangioendothelioma (CHE) is a rare, locally aggressive neoplasm of intermediate malignant potential. It is composed of a mixture of vascular tumors with a predilection for the dermis and subcutis of the extremities.
CASE DESCRIPTION: In this report, we describe a 41-year-old man who presented with a 2-month history of headache, dizziness, and intermittent seizures. Magnetic resonance imaging showed a hemorrhagic, multilobulated, and dural-based mass with extension into the calvarium. The mass measured 10.3 × 4.8 × 4 cm along the interhemispheric fissure and encased the superior sagittal sinus. Excision was performed, and histopathologic examination revealed a heterogeneous mixture of vascular components consisting of epithelioid hemangioendothelioma, retiform hemangioendothelioma, and hemangioma. This is the first report of a primary intracranial CHE.
CONCLUSION: The spectrum of mesenchymal neoplasms within the cranium expands to encompass CHE.
PMID:38468685 | PMC:PMC10927221 | DOI:10.25259/SNI_3_2024
Clin Nucl Med. 2024 Mar 7. doi: 10.1097/RLU.0000000000005144. Online ahead of print.
ABSTRACT
A 67-year-old woman was enrolled in our 68Ga-FAPI PET/CT tumor clinical trial due to her lung adenocarcinoma. The PET/CT scan additionally revealed increased uptake of FAPI in the tongue. Combined with the patient's medical history and the contrast-enhanced CT of the maxillofacial region, it was suspected to be a hemangioma. Subsequently, the patient underwent surgery and was diagnosed with capillary hemangioma of the left side of her tongue.
PMID:38466027 | DOI:10.1097/RLU.0000000000005144
Clin Case Rep. 2024 Mar 8;12(3):e8659. doi: 10.1002/ccr3.8659. eCollection 2024 Mar.
ABSTRACT
KEY CLINICAL MESSAGE: The mainstays of treatment for granuloma pyogenicum include careful evaluation of any penile growth, thorough excision of the polypoid, histological examination, and close monitoring to check relapse and management.
ABSTRACT: Pyogenic granuloma is an acquired noncancerous vascular proliferation that arises from the mucosa and skin, seldom subcutaneously or intravascularly. It is also referred to as telangiectasis granuloma or lobular capillary haemangioma. The risk factors include vascular abnormalities, medicines, hormones, and microtrauma. We discussed the case of a 24-year-old man who had a poorly managed ventral distal penile polypoid lesion at a peripheral hospital. Upon further histopathological examination, the diagnosis of pyogenic granuloma was made. Histopathologically speaking, the term "pyogenic granuloma" is misleading because the illness is not linked to the production of granulomas. Pyogenic granuloma's etiopathogenesis is still unknown; true hemangioma is thought to be a reactive hyperproliferative of the vasculature brought on by a variety of stimuli; pyogenic granuloma may be caused by uneven angiogenic factor production in response to minor local trauma or cutaneous disease. Histopathological analysis and surgical excision are the methods used for diagnosis and treatment. The mainstay of treatment for granuloma pyogenic granuloma includes careful evaluation of any penile growth, thorough excision of the polypoid, histological examination, close follow-up to check for relapse, and early management.
PMID:38464565 | PMC:PMC10923701 | DOI:10.1002/ccr3.8659
J Surg Case Rep. 2024 Mar 7;2024(3):rjae114. doi: 10.1093/jscr/rjae114. eCollection 2024 Mar.
ABSTRACT
We present the case of a 3-week-old girl with LUMBAR syndrome, a rare condition involving segmental infantile hemangiomas (IH) in the lumbosacral region, myelopathy, and other congenital anomalies. The patient developed severe ulceration of a left buttock IH. Treatment included broad-spectrum antibiotics, debridement, and a laparoscopic temporary colostomy. Propranolol therapy, wound care, and fecal diversion led to successful healing of the ulceration. The report highlights the challenges of ulcerated IH in the perineal area due to exposure to urine and stool. The comprehensive approach resulted in positive outcomes, including the successful surgical treatment of spinal dysraphism, successful colostomy reversal, and developmental progress. This case contributes insight into the surgical management of severe perianal ulcerated IH associated with LUMBAR syndrome, highlighting the importance of a tailored surgical approach with a multidisciplinary framework.
PMID:38463743 | PMC:PMC10921027 | DOI:10.1093/jscr/rjae114
J Med Case Rep. 2024 Mar 11;18(1):100. doi: 10.1186/s13256-024-04399-1.
ABSTRACT
BACKGROUND: Alveococcosis, helminthiasis caused by the larvae of Alveococcus multilocularis, is characterized by the formation of parasitic nodes in the liver. This clinical case is a rare occurrence of liver alveococcosis in Uzbekistan.
CASE PRESENTATION: We present a case of a 33-year-old Asian woman from Uzbekistan who complained of discomfort in the epigastric region and right hypochondrium, along with general weakness. She had been experiencing symptoms for 5 months when a routine ultrasound examination revealed a structural formation in the liver. Patient was investigated by using contrast enhanced computed tomography (CT) and diagnosed with liver alveococcosis with multiple lesions. Patient underwent diagnostic laparotomy with obtaining gross specimen, biomaterial was examined microscopically and found that there were small fragments of fibrous tissue determined together with small groups of cystic formations and walls consisted of chitin. Moreover, contrast enhanced CT allowed us to differentiate liver alveococcosis from cavernous hemangioma, hepatocellular carcinoma, and liver metastases from unknown source.
CONCLUSION: Contrast enhanced CT plays a major role in differentially diagnosing liver alveococcosis and makes it the first line method of choice for the consideration of the future treatment and surgical interventions.
PMID:38462632 | PMC:PMC10926632 | DOI:10.1186/s13256-024-04399-1
Kyobu Geka. 2024 Feb;77(2):150-154.
ABSTRACT
BACKGROUND: Pulmonary epithelioid hemangioendothelioma is a rare malignant disease, and most cases are found as multiple lung nodules, rarely as a single nodule.
CASE: Computed tomography( CT) in a 71-year-old man revealed a growing 3-mm lung nodule in the left S6 after rectal cancer operation. Wedge resection was performed. A pathological examination resulted in a diagnosis of pulmonary epithelioid hemangioendothelioma based on CD31 and CD34 positivity in immunohistochemistry.
CONCLUSION: When new nodules are noted on routine CT scans of other malignancies, it is essencial to make a pathological diagnosis, bearing in mind that pulmonary nodules can arise from a variety of causes.
PMID:38459866
Pediatr Dermatol. 2024 Mar 8. doi: 10.1111/pde.15600. Online ahead of print.
ABSTRACT
There is limited information available on pressure-related neonatal nasal injuries. We present three neonates born with erythema and purpura of the nasal tip that subsequently ulcerated, then evolved into a thick eschar. Each healed well with conservative management but left behind significant scarring. The sharp demarcation and location of the lesions were suggestive of hypoxic tissue damage akin to halo scalp ring alopecia. Further investigation is necessary to elucidate the etiology and optimal management of this condition.
PMID:38459633 | DOI:10.1111/pde.15600
World Neurosurg. 2024 Mar 6:S1878-8750(24)00377-2. doi: 10.1016/j.wneu.2024.03.003. Online ahead of print.
ABSTRACT
BACKGROUND AND OBJECTIVES: Capillary hemangiomas are rare vascular lesions that rarely affect the central nervous system. When they present within the spinal canal, they are typically confined intradurally, with seldom intramedullary extension. We herein present a rare case of spinal intramedullary capillary hemangioma, with a systematic review of literature.
METHODS: Medical records and imaging data were retrospectively reviewed using the health record software EPIC and the radiology management software system RIS/PACS (QReads). The report was written in accordance with the CARE guidelines. We also performed a systematic review of literature on all cases of intramedullary spinal capillary hemangiomas, in accordance with PRISMA guidelines.
RESULTS: This is a case of a 54-year-old male who presented with progressive paraplegia and sensory deficits in the lower extremities. A spinal MRI showed an intramedullary enhancing lesion centered at T11 with associated cord compression. He underwent a thoracic laminectomy and gross total resection of the lesion without complications and subsequent improvement on his neurological exam. Histological examination showed findings consistent with a capillary hemangioma. Literature review also documented 21 studies with a combined total of 38 cases of intramedullary spinal capillary hemangiomas.
CONCLUSION: Purely intramedullary capillary hemangiomas are unusual spinal lesions with only a few cases reported in the literature, that should be considered in the differential diagnosis of intramedullary tumors. Surgical management remains the first line of treatment for symptomatic patients.
PMID:38458255 | DOI:10.1016/j.wneu.2024.03.003
Am J Dermatopathol. 2024 Apr 1;46(4):228-231. doi: 10.1097/DAD.0000000000002642. Epub 2024 Mar 8.
ABSTRACT
Epithelioid hemangioma (EH), also known as angiolymphoid hyperplasia with eosinophilia, is an unusual vascular proliferation that tends to manifest in the head and neck region. Its occurrence on the penis is rare, with only scarce reported cases in the literature. The histopathological examination of this condition poses a challenge because it shares similarities with other entities, such as epithelioid hemangioendothelioma, epithelioid angiosarcoma, cutaneous epithelioid angiomatous nodule, or Kaposi sarcoma (KS). The infrequency of EH in penile locations underscores the need for accurate diagnostic differentiation and tailored treatment strategies for this atypical presentation. This case report highlights a rare instance of multifocal penile EH. The patient's lesions exhibited distinctive histopathologic features, with extensive eosinophilic infiltration, presence of necrosis, and infiltration to subcutaneous fat. The patient was treated with doxorubicin, a chemotherapy drug, with a very good response. This successful therapeutic outcome underscores the potential efficacy of doxorubicin in the management of multifocal penile EH. The comprehensive analysis of this case contributes to our understanding of the clinical presentation, histopathologic features, and treatment modalities for this rare penile tumor, providing valuable insights for future clinical considerations.
PMID:38457672 | DOI:10.1097/DAD.0000000000002642
Am J Dermatopathol. 2024 Apr 1;46(4):223-227. doi: 10.1097/DAD.0000000000002647.
ABSTRACT
Epithelioid hemangioma (EH) is a benign vascular tumor displaying diverse histomorphologies. Among these, one EH subtype comprises cellular sheets of atypical epithelioid cells, posing potential challenges in distinguishing it from malignant vascular lesions. In this case report, we present a cutaneous cellular EH that carries the rare GATA6::FOXO1 gene fusion, a recent discovery. Our aim is to provide an updated insight into the evolving knowledge of EHs while delving into the histologic and molecular characteristics of the primary differential diagnoses.
PMID:38457669 | DOI:10.1097/DAD.0000000000002647
Radiol Imaging Cancer. 2024 Mar;6(2):e230198. doi: 10.1148/rycan.230198.
NO ABSTRACT
PMID:38456786 | DOI:10.1148/rycan.230198
Front Oncol. 2024 Feb 22;14:1322684. doi: 10.3389/fonc.2024.1322684. eCollection 2024.
ABSTRACT
Kaposiform hemangioendothelioma (KHE), a rare form of vascular neoplasm, is typically seen in children. In this paper, we report a unique case of KHE replacing bone marrow tissue mimicking myeloproliferative neoplasm with additional involvement in the lung, liver, and brain in a 60-year-old Caucasian woman. The patient was initially seen in the hematology department for the chief complaint of epigastric pain and anemia. Abdominal magnetic resonance imaging (MRI) revealed mild splenomegaly with iron deposition secondary to extramedullary hematopoiesis. Additional workup was inconclusive. Subsequent bone marrow and lung biopsies eventually revealed bone marrow with extensive grade 3 fibrosis and multiple foci of low-grade vasoformative neoplasm in the lung suggestive of KHE. Although rare, KHE can present as an aggressive disease with indolent behavior in adults and can be distinguished from other vascular malignancies based on histopathology and imaging findings.
PMID:38454925 | PMC:PMC10917883 | DOI:10.3389/fonc.2024.1322684
J Transl Med. 2024 Mar 7;22(1):247. doi: 10.1186/s12967-023-04723-1.
ABSTRACT
BACKGROUND: Currently, noninvasive imaging techniques and circulating biomarkers are still insufficient to accurately assess carotid plaque stability, and an in-depth understanding of the molecular mechanisms that contribute to plaque instability is still lacking.
METHODS: We established a clinical study cohort containing 182 patients with carotid artery stenosis. After screening, 39 stable and 49 unstable plaques were included in the discovery group, and quantitative proteomics analysis based on data independent acquisition was performed for these plaque samples. Additionally, 35 plaques were included in the validation group to validate the proteomics results by immunohistochemistry analysis.
RESULTS: A total of 397 differentially expressed proteins were identified in stable and unstable plaques. These proteins are primarily involved in ferroptosis and lipid metabolism-related functions and pathways. Plaque validation results showed that ferroptosis- and lipid metabolism-related proteins had different expression trends in stable plaques versus unstable fibrous cap regions and lipid core regions. Ferroptosis- and lipid metabolism-related mechanisms in plaque stability were discussed.
CONCLUSIONS: Our results may provide a valuable strategy for revealing the mechanisms affecting plaque stability and will facilitate the discovery of specific biomarkers to broaden the therapeutic scope.
PMID:38454421 | PMC:PMC10921703 | DOI:10.1186/s12967-023-04723-1
J Fluoresc. 2024 Mar 7. doi: 10.1007/s10895-024-03641-9. Online ahead of print.
ABSTRACT
In this study, we successfully synthesized an innovative 1D-Zn(II) coordination polymer, denoted as [Zn(L)(H2O)2]n, employing the Schiff base {4-[(2-hydroxy-3-methoxy-benzylidene)-amino]-benzoic acid} (H2L). The Schiff base was obtained through the reaction of 4-aminobenzoic acid and o-vanillin under slow volatilization conditions. The resulting compound exhibits remarkable green fluorescence emission properties, indicating its potential as a novel fluorescent and sensing material. Hydrogels based on hyaluronic acid (HA) and carboxymethyl chitosan (CMCS), denoted as HA/CMCS hydrogels, were synthesized using a chemical method. Additionally, we utilized bleomycin as a model drug to synthesize a novel bleomycin metal gel and assessed its anti-hemangioma activity. Molecular docking simulations revealed that the Zn complex can form stable bonds with the key target, involving the methoxy and carboxyl groups on the Zn complex.
PMID:38451363 | DOI:10.1007/s10895-024-03641-9
Clin Transl Med. 2024 Mar;14(3):e1610. doi: 10.1002/ctm2.1610.
NO ABSTRACT
PMID:38450890 | PMC:PMC10918732 | DOI:10.1002/ctm2.1610
Am J Med Genet A. 2024 Mar 7:e63582. doi: 10.1002/ajmg.a.63582. Online ahead of print.
ABSTRACT
We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum.
PMID:38450833 | DOI:10.1002/ajmg.a.63582
J Clin Ultrasound. 2024 Mar 7. doi: 10.1002/jcu.23652. Online ahead of print.
ABSTRACT
Hepatic hemangioma is the most prevalent benign liver tumor during the fetal and neonatal period, and its rupture poses a severe threat to newborns' lives-this article presents a case involving the spontaneous rupture of a hepatic hemangioma in a neonate. Early diagnosis through ultrasound enabled prompt treatment, resulting in the patient's timely discharge.
PMID:38450579 | DOI:10.1002/jcu.23652
Epilepsy Res. 2024 Mar;201:107338. doi: 10.1016/j.eplepsyres.2024.107338. Epub 2024 Mar 2.
ABSTRACT
BACKGROUND: The NOD-like receptor family, pyrin domain-containing 3 (NLRP3) inflammatory pathway is implicated in the development of epilepsy and can be suppressed by the activation of the silent information regulator 1 (SIRT1). However, the expression and correlation of the NLRP3 pathway and SIRT1 in drug-resistant epilepsy (DRE) remain unknown.
METHODS: This study evaluated the histopathology of the cerebral cortex from nine patients with DRE and eight patients with cavernous haemangioma undergoing surgical treatment. It analysed the expression of the NLRP3, interleukin-1β (IL-1β), caspase-1 and SIRT1 using immunohistochemistry. Additionally, the contents of NLRP3, caspase-1, IL-1β and SIRT1 in the serum samples of the included study participants were determined using ELISA method. The correlation between the NLRP3 pathway and the SIRT1 was assessed using Spearman's correlation analysis.
RESULTS: The expression of NLRP3, caspase-1 and IL-1β in the cerebral cortex of patients with DRE was elevated, with the NLRP3 expression being negatively correlated with the SIRT1 expression. Furthermore, IL-1β in serum was upregulated in patients with DRE. The correlation between the content of serum SIRT1 and NLRP3, caspase-1 and IL-1β in patients with DRE was not significant. Notably, serum caspase-1 levels were obviously higher in patients with bilateral hippocampal sclerosis than in patients with unilateral hippocampal sclerosis.
CONCLUSIONS: The current results indicate that the expression of the NLRP3/caspase-1/IL-1β pathway is significantly upregulated in patients with DRE and that it is partially correlated with the SIRT1 expression. This study is important for understanding the pathophysiology of DRE and developing new treatment strategies for it.
PMID:38447234 | DOI:10.1016/j.eplepsyres.2024.107338
Clin Cancer Res. 2024 Mar 6. doi: 10.1158/1078-0432.CCR-23-3817. Online ahead of print.
ABSTRACT
PURPOSE: Epithelioid hemangioendothelioma (EHE) is a rare vascular cancer with pathogenic TAZ-CAMTA1 operating as an oncogenic driver through activation of MAPK pathway. Trametinib is an inhibitor of MEK, a critical kinase in the MAPK pathway. We sought to evaluate the effect of trametinib in patients with EHE.
PATIENTS AND METHODS: A phase 2 trial of trametinib was conducted in patients with locally advanced or metastatic EHE. Eligibility requirements included evidence of tumor progression or presence of EHE-related pain requiring opiates for management prior to enrollment. The primary endpoint was objective response rate (ORR) per RECIST1.1 in cases with TAZ-CAMTA1 confirmed by fusion-FISH. Secondary objectives were to estimate ORR for all patients, median PFS, 2-year OS rate, patient safety, and change in patient-reported global health and pain scores per PROMIS questionnaires.
RESULTS: 44 patients enrolled and 42 started trametinib. TAZ-CAMTA1 was detected in 27 tumor samples. The ORR was 3.7% (95% CI: 0.094, 19.0), median PFS was 10.4 months (95% CI: 7.1, NA), and 2-year OS rate was 33.3% (95% CI: 19.1, 58.2) in the target population. Median pain intensity and interference scores improved significantly after 4 weeks of trametinib in patients using opiates. Common AEs related to trametinib were rash, fatigue, nausea/vomiting, diarrhea/constipation, alopecia and edema; one Grade 5 ARDS/pneumonitis was related to trametinib.
CONCLUSIONS: Trametinib was associated with reduction in EHE-related pain and median PFS of more than 6 months providing palliative benefit in patients with advanced EHE, but the trial did not meet the ORR goal.
PMID:38446990 | DOI:10.1158/1078-0432.CCR-23-3817
SA J Radiol. 2024 Feb 12;28(1):2726. doi: 10.4102/sajr.v28i1.2726. eCollection 2024.
ABSTRACT
The trajectory from the clinical identification of a benign liver mass to establishing a precise diagnosis is perplexing and arduous. Related contributory factors are that such lesions are encountered infrequently and that there is a nonavailability of dedicated paediatric radiologists in the developing world. The objective of this study was to review the spectrum of benign liver lesions in children and their typical imaging features. Cross-sectional imaging of all paediatric patients (< 18 years) with liver lesions (single and multiple) performed in the institute from 01 January 2018 to 01 January 2019 as well as those acquired at outside institutions and referred to the institute for management was included. Ultrasound was done as the first line of investigation in all the cases with suspicious liver masses and retrospectively performed in referral cases in whom CT or MRI was already done. Images were analysed by two senior radiologists. Most of the cases were diagnosed based on clinical, biochemical and imaging findings, and biopsy was only performed in equivocal cases. Most of the benign liver lesions in the paediatric age group were hepatic haemangioma and mesenchymal hamartomas. A simplified clinical-radiologic paradigm should be established for benign liver lesions in children to assist in reaching the correct diagnosis.
CONTRIBUTION: The article demonstrates the salient radiological findings of various benign liver lesions in the paediatric age group and the role of demographic, clinical and biochemical findings, which plays a substantial role in the diagnosis and avoids unnecessary biopsies.
PMID:38444652 | PMC:PMC10913176 | DOI:10.4102/sajr.v28i1.2726
J Clin Aesthet Dermatol. 2024 Feb;17(2):32-42.
ABSTRACT
OBJECTIVE: Our aim was to review the current and emerging dermatological applications of the novel thermomechanical fractional injury (TMFI) device, Tixel® (Novoxel, Netanya, Israel).
METHODS: A systematic review of PubMed using the search terms of "Tixel", "thermomechanical fractional", ["thermomechanical ablation" and "skin"], and ["thermomechanical ablation" and "dermatology"].
RESULTS: Thirty-six articles matched our inquiry. Fifteen articles did not meet inclusion criteria. Of the remaining 21 articles, eight were related to device-assisted drug delivery, seven related to photoaging, and seven related to scientific/ preclinical exploration. Preclinical studies have shown ablative and non-ablative microchannel formation similar to that of CO₂ laser but without charring, with clinical studies demonstrating efficacy for a wide range of applications including rhytides, hypertrophic scarring, infantile hemangiomas, and acne/rosacea. The treatment is well tolerated with minimal discomfort and downtime, showing promise for pain-averse and pediatric populations. Few adverse events have been reported, with a high degree of safety demonstrated in all Fitzpatrick types.
LIMITATIONS: Heterogeneous result reporting among studies. Limited number of randomized controlled trials.
CONCLUSION: Tixel® is an emerging TMFI device with a wide range of current and potential applications, including device-assisted drug delivery and treatment of rhytides, photoaging, and scars among other conditions. The device has both ablative and non-ablative settings and has been safely used in all Fitzpatrick skin types. Larger and randomized controlled trials are needed to compare this device to current standard of care treatments.
PMID:38444425 | PMC:PMC10911265
Indian J Otolaryngol Head Neck Surg. 2024 Feb;76(1):1037-1039. doi: 10.1007/s12070-023-04100-w. Epub 2023 Jul 25.
ABSTRACT
Angiolymphoid hyperplasia with eosinophilia is a rare, benign, vaso-proliferative disease with a dense eosinophilic inflammatory infiltrate seen in the intradermal or subcutaneous region. It is also termed an epitheloid hemangioma, and it mostly affects females rather than males. It is seen as reddish to brown, fleshy, proliferative, papular, or nodular lesion affecting the head and neck region, most commonly the auricular and periauricular regions. The aetiology is unknown, but the most likely causes are trauma, infection, and hyperestrogenic condition like pregnancy or the use of oral contraceptive agents. It usually measures about 2-3 cm in size. It should be differentiated from Kimura disease, which is characterized by chronic inflammation and large subcutaneous nodules in the head and neck region. Here is a rare case report of angiolymphoid hyperplasia in a middle-aged male patient involving the external auditory canal of the left ear.
PMID:38440633 | PMC:PMC10908676 | DOI:10.1007/s12070-023-04100-w
Indian J Otolaryngol Head Neck Surg. 2024 Feb;76(1):1138-1142. doi: 10.1007/s12070-023-04178-2. Epub 2023 Sep 7.
ABSTRACT
Angiolymphoid hyperplasia with eosinophilia (ALHE) is a rare, benign, reactive vaso-proliferative condition in the dermal and subcutaneous tissues of the head and neck. A 28-year-old female presented with slow-growing painless swelling behind her left ear. FNAC revealed benign soft tissue neoplasm and histopathological examination after surgical excision revealed angiolymphoid hyperplasia with eosinophilia. ALHE origin has been variously attributed to prior trauma, hyperestrogenemia, infectious agents, atopy, reactive hyperplasia, and benign neoplasia. Retroauricular ALHE has been rarely reported. However, on the basis of our case report, it should be a viable differential diagnosis when large subcutaneous tumors of the head and neck are encountered. When big subcutaneous tumors of the head and neck are present, especially in females, a valid differential diagnosis for angiolymphoid hyperplasia with eosinophilia, a rare condition marked by dermal or subcutaneous endothelial cell proliferation, should also be considered.
PMID:38440547 | PMC:PMC10908713 | DOI:10.1007/s12070-023-04178-2
Indian J Otolaryngol Head Neck Surg. 2024 Feb;76(1):137-140. doi: 10.1007/s12070-023-04109-1. Epub 2023 Aug 19.
ABSTRACT
OBJECTIVE: To study the efficacy of coblation in the endoscopic surgery of sinonasal and skull base masses.
STUDY DESIGN: Prospective Interventional Study.
METHOD: 100 patients with signs and symptoms of nasal obstruction were enrolled for 14 months. On the basis of diagnosis they underwent endoscopic sinus surgery using coblator and their intra-operative blood loss, operation time, post-operative pain threshold using VAS(Visual analogue scale) were enlisted.
RESULT: 80% had Sinonasal polyp followed by Inverted papilloma in 8%, Angiofibroma in 5%, Hemangioma in 3%, Esthesioneuroblastoma in 2% and Rhinosporidiosis in 2%. The Minimum blood loss was 50 ml and Maximum was 600 ml. 30% patients had no pain, 60% had Mild pain and 10% had Moderate pain post procedure. Mean Operation time was 112.86 min.
CONCLUSION: Coblation has proven to have reduced operation time, blood loss and faster wound healing. It has now established itself as an essential tool for advance tumours in nasal surgeries.
PMID:38440439 | PMC:PMC10908875 | DOI:10.1007/s12070-023-04109-1
Case Rep Gastroenterol. 2024 Mar 4;18(1):90-97. doi: 10.1159/000536111. eCollection 2024 Jan-Dec.
ABSTRACT
INTRODUCTION: Benign lesions of the liver are very common findings, usually randomly discovered, especially during examinations for other indications. The frequent use of imaging modalities may be responsible for the statistical increase in the incidence of these findings.
CASE PRESENTATION: In this publication, we present the cases of 2 female patients with benign liver lesions, the occurrence of which is considered rare, and only a few dozen cases have been described worldwide. In both cases, clinical symptoms, diagnostic approach, and surgical treatment are presented.
CONCLUSION: Due to increasing availability of imaging methods, the occurrence of previously considered rare benign liver lesions increases as well. In many cases, the malignant potential of these findings remains unclear. Decision-making process should include a multidisciplinary board.
PMID:38439817 | PMC:PMC10911787 | DOI:10.1159/000536111
Pediatr Blood Cancer. 2024 Mar 4:e30921. doi: 10.1002/pbc.30921. Online ahead of print.
ABSTRACT
The diagnosis of vascular anomalies remains challenging due to significant clinical heterogeneity and uncertain etiology. Evaluation using biopsy and/or genetic testing for somatic variants is invasive, expensive, and prone to sampling error. There is great need for noninvasive and easily measured blood laboratory biomarkers that can aid not only in diagnosis, but also management of treatments for vascular anomalies. Angiopoietin-2, a circulating blood angiogenic factor, is highly elevated in patients with kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon and kaposiform lymphangiomatosis. Here, we describe our clinical experience using serum angiopoietin-2 as a biomarker for diagnosis and monitoring response to treatment.
PMID:38439088 | DOI:10.1002/pbc.30921
J Vasc Surg Cases Innov Tech. 2023 Dec 16;10(2):101403. doi: 10.1016/j.jvscit.2023.101403. eCollection 2024 Apr.
ABSTRACT
This study aims to investigate the significance of using the Toumai robotic platform for the resection of inferior vena cava (IVC) hemangiomas. Our objective is to provide information on the potential benefits of this innovative approach in managing these uncommon vascular tumors and to contribute to the growing body of knowledge in the field of surgical oncology and vascular surgery. A 37-year-old female patient with an incidental finding of a right retroperitoneal mass underwent contrast-enhanced magnetic resonance imaging, which confirmed the diagnosis of an IVC hemangioma. Due to the rarity and complexity of this vascular tumor, the medical team opted for a novel approach using the Toumai robotic surgical platform (Shanghai MicroPort MedBot Group Co, Ltd). Under general anesthesia, the patient was placed in the left lateral decubitus position, and the robotic arms were controlled remotely through the Toumai platform. A transperitoneal approach was adopted, and the surgeon meticulously resected the tumor while preserving the integrity of the IVC. The use of the Toumai robotic platform facilitated precise tumor resection, minimizing the risk of damage to surrounding structures. The minimally invasive nature of the robotic surgery contributed to a reduced incidence of postoperative complications and accelerated patient recovery. Furthermore, the remote fifth-generation mobile network surgical capabilities of the Toumai platform allow for expert care to be provided to patients despite geographic barriers. The robotic-assisted surgical approach using the Toumai platform demonstrates its potential benefits in managing rare and complex vascular tumors such as IVC hemangiomas. Robotic technology has the potential to revolutionize the field of surgical oncology and vascular surgery, leading to improved patient outcomes and healthcare delivery. However, more extensive clinical studies and larger case series are needed to validate the long-term safety and efficacy of this innovative surgical approach. Continued research and collaboration between clinicians and robotic technology experts are essential to fully realize the potential of robotic-assisted surgery for the benefit of patients with rare and challenging medical conditions.
PMID:38435787 | PMC:PMC10907154 | DOI:10.1016/j.jvscit.2023.101403
Pan Afr Med J. 2023 Dec 12;46:103. doi: 10.11604/pamj.2023.46.103.41202. eCollection 2023.
NO ABSTRACT
PMID:38435403 | PMC:PMC10908295 | DOI:10.11604/pamj.2023.46.103.41202
Can Vet J. 2024 Mar;65(3):234-240.
ABSTRACT
A 13-year-old spayed female rottweiler crossbreed dog was presented with an 8-day history of abnormal gait and collapse associated with excitement or physical activity. A cardiac gallop was noticed on thoracic auscultation, and a 1st-degree atrioventricular block and sinus tachycardia were noted on an electrocardiogram. Echocardiography identified a hypoechoic, irregularly marginated luminal mass in the right ventricle at the level of the pulmonic valves. Postmortem gross examination confirmed the presence of a soft, polypoid, and botryoid mass (9 × 3 × 3 cm) with a smooth and glistening surface attached to the endocardium of the right ventricular outflow tract and extending to the pulmonary artery. The histological findings were consistent with the diagnosis of myxosarcoma with pulmonary embolism. In addition, the dog in this report had a right atrial hemangiosarcoma and a cutaneous hemangioma unrelated to her clinical findings. Key clinical message: Cardiac myxosarcomas are very rare neoplasms in dogs and concomitant primary heart tumors of different histogenesis are even rarer in dogs. To the authors' knowledge, this is the first report of coexistent myxosarcoma and hemangiosarcoma in the heart of a dog. Cardiac myxosarcomas should be considered in the differential diagnosis of intracavitary heart masses associated with signs of cardiac obstruction and failure.
PMID:38434164 | PMC:PMC10880390
Heliyon. 2024 Feb 18;10(4):e26201. doi: 10.1016/j.heliyon.2024.e26201. eCollection 2024 Feb 29.
ABSTRACT
BACKGROUND AND PURPOSE: To examine the diagnostic value of imaging features in cavernous sinus hemangioma (CSH).
MATERIALS AND METHODS: The clinical and imaging data of patients with pathologically confirmed CSH, cavernous sinus meningioma, trigeminal schwannoma and pituitary adenoma invading the cavernous sinus between May 2017 and May 2022 were retrospectively analyzed. The cases were divided into the CSH and non-CSH groups to summarize the magnetic resonance imaging (MRI) characteristics of CSH. Univariate χ2 analysis was performed to assess five indexes, including signal intensity on T2WI, homogeneity of T2WI, enhancement of enhanced T1, enhanced T1 with dural tail sign, and cavernous sinus swelling and extrusion sign.
RESULTS: There were significant differences in four features, including hyperintensity on T2WI, homogeneity of T2WI, T1-enhanced without meningeal tail sign, and cavernous sinus swelling and extrusion sign between the CSH and non-CSH groups, with cavernous sinus swelling and extrusion sign showing the most pronounced distinction, with a sensitivity of 100%, a specificity of 93.02%, and an accuracy of 94.23%. The four features could be jointly used as diagnostic criteria, with a sensitivity of 94.44%, a specificity of 100.00%, and an accuracy of 99.04%.
CONCLUSION: Cavernous sinus swelling and extrusion sign is a reliable imaging index for CSH diagnosis. Homogenous hyperintensity or marked hyperintensity on T2WI, enhanced T1 without dural tail sign, and cavernous sinus swelling and extrusion sign could be jointly used as diagnostic criteria, which may improve the accuracy of CSH diagnosis.
PMID:38434011 | PMC:PMC10906154 | DOI:10.1016/j.heliyon.2024.e26201
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Mar;38(3):225-229. doi: 10.13201/j.issn.2096-7993.2024.03.009.
ABSTRACT
Objective:This study aims to provide a comprehensive summary of the pathogenesis, screening modalities, treatment strategies, repair modalities and preliminary results associated with facial nerve tumors. Methods:A retrospective analysis was conducted on the clinical data of 12 patients with facial nerve tumors who were admitted to our department between May 2018 and February 2023. The study population consisted of 5 males and 7 females, with ages ranging from 35 to 90 years. Clinical symptoms observed in these patients included facial nerve palsy, hearing loss, tinnitus, headache, and otalgia, etc. The severity of facial nerve dysfunction was assessed using the House-Brackmann(H-B) facial nerve function classification, with 3 cases classified as grade Ⅰ, 4 cases as grade Ⅲ, 2 cases as grade Ⅳ, and 3 cases as grade Ⅴ. There was a total of 11 patients who presented with hearing loss. Among these patients, 7 cases were diagnosed with conductive hearing loss, 2 cases with sensorineural hearing loss, and 2 cases with mixed hearing loss. The selection of the observation or surgical route for tumor localization was based on clinical symptoms, facial nerve function grading, and imaging examination results including temporal bone CT and enhanced MRI. Specifically, the location of the tumor was selected for observation or the best surgical route: 2 cases were followed up for observation, 1 case underwent biopsy, and 9 cases underwent tumor resection(7 cases of trans-mastoid approach, 2 cases of combined parotid-mastoidal approach), concurrent repair of the facial nerve(4 cases of auricular nerve grafting, 3 cases of facial nerve diversion anastomosis, 2 cases of peroneal nerve grafting). (4 cases of auricular nerve graft, 3 cases of facial nerve diversion anastomosis and 2 cases of peroneal nerve grafting). Periodic postoperative evaluation of facial nerve function was conducted. Results:1-year follow-up was available. Intraoperatively, it was observed that 66.7%(6 out of 9) of the facial nerve tumors were present in multiple segments. Among these segments, the vertical segment had the highest proportion, accounting for 77.8%(7 out of 9), followed by the labyrinthine segment/geniculate ganglion with 66.7%(6 out of 9) and the horizontal segment with 55.6%(5 out of 9). Postoperative pathology confirmed 8 cases with nerve sheath meningioma, Ⅰ with seminal fibroma and 1 with hemangioma. Postoperative facial nerve function was graded as H-B grade I in one patient), grade Ⅲ in three, grade Ⅳ in four, grade Ⅴ in 2, and grade Ⅵ in 2 patients. The auditory outcomes following surgery are as follows: 8 individuals experienced postoperative hearing loss, while 2 individuals demonstrated postoperative hearing preservation. Conclusion:In the case of patients presenting with facial nerve palsy as their initial symptom, it is imperative to consider the potential presence of a facial nerve tumor. To determine the appropriate course of action, it is necessary to ascertain the size and location of the tumors through imaging examinations. This information will aid in the decision making process regarding whether surgical intervention is warranted, and so, the most suitable approach. Additionally, the choice of repair method during the operation should be guided by the extent of facial nerve defect.
PMID:38433692 | DOI:10.13201/j.issn.2096-7993.2024.03.009
Acta Otorrinolaringol Esp (Engl Ed). 2024 Mar 1:S2173-5735(24)00041-3. doi: 10.1016/j.otoeng.2024.02.001. Online ahead of print.
NO ABSTRACT
PMID:38432618 | DOI:10.1016/j.otoeng.2024.02.001
Arch Gynecol Obstet. 2024 Mar 3. doi: 10.1007/s00404-023-07301-4. Online ahead of print.
ABSTRACT
Anastomosing hemangioma (AH) is a rare benign lesion that is asymptomatic in the majority of cases. Herein, we present the case of a 26-year-old woman with acute lower abdominal pain for 5 months. The patient subsequently developed symptoms of hyperestrogenism with prolonged menstrual periods. The possibility of malignancy could not be ruled out via ultrasonography and computed tomography. The tumor was completely removed using laparoscopic surgery, and pathological examination confirmed AH of the ovary.
PMID:38433133 | DOI:10.1007/s00404-023-07301-4
Zhonghua Bing Li Xue Za Zhi. 2024 Mar 8;53(3):311-316. doi: 10.3760/cma.j.cn112151-20231026-00311.
ABSTRACT
血管瘤是由胚胎期间成血管细胞增生形成的肿瘤,国际血管瘤和脉管畸形研究学会的分类能很好的指导该疾病的临床管理,对于及时临床干预治疗和规范随访有重要意义,并且可以有效的避免诊断术语混乱。本文对常见良性血管瘤类型进行了系统的描述,对比和总结了常见良性血管瘤临床病理特征,并且详细介绍了常见良性血管瘤的诊断流程。.
PMID:38433062 | DOI:10.3760/cma.j.cn112151-20231026-00311
Zhonghua Bing Li Xue Za Zhi. 2024 Mar 8;53(3):230-236. doi: 10.3760/cma.j.cn112151-20231013-00256.
ABSTRACT
Objective: To investigate the clinicopathological features, classification, and genetic characteristics of common lymphatic malformation (CLM) in superficial soft tissue. Methods: A retrospective study of 110 patients with the diagnosis of CLM at the Henan Province People's Hospital, China from August 2019 to August 2022 was performed. The clinicopathological features, relevant immunohistochemical (IHC) staining results, and fluorescence quantitative PCR of PIK3CA mutation were analyzed, and patients were followed up. Results: Among the 110 CLM patients, there were 53 males and 57 females; 65 cases (65/110, 59.1%) were first detected when the patients were≤2 years old. The most common location was the head and neck in 41 cases (41/110, 37.3%). Clinically, 102 cases (102/110, 92.7%) were solitary, 83 cases (83/110, 75.5%) were skin-colored, 69 cases (69/110, 62.7%) had indistinct borders, and 10 cases (10/110, 9.1%) had diffuse and severe macroscopic manifestations. There were 52 macrocystic type (52/110, 47.3%), 23 microcystic type (23/110, 20.9%), and 35 combined type (35/110, 31.8%). The macrocystic CLM presented as soft, translucent masses with large cystic cavities on the cut surface, and histologically they were composed of large, irregularly dilated channels that were thicker with irregular smooth muscle and lymphocytic infiltration. Microcystic CLM showed wartlike projections or translucent blisters on the skin, with small honeycomb structures on the cut surface, and histologically consisted of round or angular dilated small lymphatic vessels with little or no smooth muscle. The combined CLM had both macrocystic and microcystic morphologies. IHC staining showed that the lymphatic endothelial cells were positive for LYVE-1, D2-40, PROX1, CD31, and VEGFR3 but negative for CD34; in the macrocystic and combined CLM vessel walls were positive for SMA. Eight of 13 CLM had PIK3CA mutation. All patients were followed up, and 24 (24/110, 21.8%) had relapses, which more frequently occurred in combined type, followed by microcystic type. Conclusions: CLM is a congenital vascular malformation composed of dilated, abnormal lymphatic channels, with PIK3CA mutation. There are significant differences in clinicopathological characteristics among the different types. Since microcystic and combined CLM are prone to recurrence, accurate pathological subtyping is necessary to guide treatment and to predict prognosis.
PMID:38433049 | DOI:10.3760/cma.j.cn112151-20231013-00256
Zhonghua Bing Li Xue Za Zhi. 2024 Mar 8;53(3):217-223. doi: 10.3760/cma.j.cn112151-20231025-00300.
ABSTRACT
The diagnosis of vascular diseases is not only about distinguishing neoplastic or non-neoplastic lesions, but also focusing more on emphasizing the essence of the disease, namely the presence or absence of endothelial cell proliferation, and further to distinguishing true hemangioma tumors or vascular malformation. This article is based on the International Society for the Study of Vascular Anomalies (ISSVA) classification, which is widely used in clinical practice, and discusses the related pathological diagnosis issues of vascular diseases.
PMID:38433047 | DOI:10.3760/cma.j.cn112151-20231025-00300
Sci Rep. 2024 Mar 2;14(1):5161. doi: 10.1038/s41598-024-55345-6.
ABSTRACT
There is an increased risk of cerebrovascular accidents (CVA) in individuals with PHACES, yet the precise causes are not well understood. In this analysis, we aimed to examine the role of arteriopathy in PHACES syndrome as a potential contributor to CVA. We analyzed clinical and radiological data from 282 patients with suspected PHACES syndrome. We analyzed clinical features, including the presence of infantile hemangioma and radiological features based on magnetic resonance angiography or computed tomography angiography, in individuals with PHACES syndrome according to the Garzon criteria. To analyze intravascular blood flow, we conducted a simulation based on the Fluid-Structure Interaction (FSI) method, utilizing radiological data. The collected data underwent statistical analysis. Twenty patients with PHACES syndrome were included. CVAs were noted in 6 cases. Hypoplasia (p = 0.03), severe tortuosity (p < 0.01), absence of at least one main cerebral artery (p < 0.01), and presence of persistent arteries (p = 0.01) were associated with CVAs, with severe tortuosity being the strongest predictor. The in-silico analysis showed that the combination of hypoplasia and severe tortuosity resulted in a strongly thrombogenic environment. Severe tortuosity, combined with hypoplasia, is sufficient to create a hemodynamic environment conducive to thrombus formation and should be considered high-risk for cerebrovascular accidents (CVAs) in PHACES patients.
PMID:38431727 | PMC:PMC10908848 | DOI:10.1038/s41598-024-55345-6
Z Geburtshilfe Neonatol. 2024 Mar 1. doi: 10.1055/a-2262-8607. Online ahead of print.
ABSTRACT
The Kasabach-Merrit syndrome is characterized as the association of a vascular tumor, typically a caposiform hemangioendothelioma and rarely a tufted hemangioma, and a severe consumptive coagulopathy with potentially life-threatening thrombocytopenia. The severe coagulopathy with increased bleeding tendency must be considered before invasive procedures and often requires repeated platelet concentrate substitutions. We present a case of a mature male neonate with Kasabach-Merritt- Syndrome as well as VACTERL association. The VACTERL association describes a group of malformations. Our patient presented with anal atresia combined with tethered cord, and left renal agenesis. The VACTERL association as well as Kasabach-Merritt syndrome were found to be independent pathologies within this patient. A common occurrence or an association with each other has not been described in the literature so far. The challenging coagulation setting due to severe thrombocytopenia complicated the surgical management so far. Finally, mTOR-inhibitor sirolimus was successful in terms of tumor reduction and especially reduction of platelet consumption.
PMID:38428835 | DOI:10.1055/a-2262-8607
Neuropathology. 2024 Mar 2. doi: 10.1111/neup.12969. Online ahead of print.
ABSTRACT
In this report, we describe a very rare case of metastatic epithelioid hemangio-endothelioma (EHE) originating from other organs such as the lung and requiring craniotomy due to subsequent hemorrhage. A 50-year-old man was diagnosed with EHE in the bilateral lungs, the mediastinum, and the right adrenal gland 8 years earlier. One year earlier, he had developed spinal metastasis. Six months earlier, a screening brain MRI had revealed multiple brain metastases of tumor. He developed subcortical hemorrhage from the tumor in the right parietal lobe and successfully underwent removal of hematoma and tumor. Histopathological examinations revealed EHE. Metastatic EHE is very rare but may be at high risk of intracranial hemorrhage. It is quite important to consider the possibility of brain metastasis and subsequent bleeding when treating patients with EHE.
PMID:38430007 | DOI:10.1111/neup.12969
Indian J Pathol Microbiol. 2024 Feb 19. doi: 10.4103/ijpm.ijpm_587_23. Online ahead of print.
ABSTRACT
BACKGROUND: Perivascular epithelioid cell tumors (PEComas) encompass a group of rare mesenchymal neoplasms, with dual melanocytic and muscular differentiation. Hepatic PEComas are rare and difficult to diagnose, and their behavior is still unclear.
MATERIALS AND METHODS: Herein, we report a total of five cases of hepatic and perihepatic PEComas over a period of the last 5 years from our and collaborating center's archive. A detailed histological evaluation was done. A comprehensive panel of immunohistochemical stains was used and fluorescence in-situ hybridization analysis was performed for the TFE3 gene using break-apart probes.
RESULT: All these patients were women, with an average age of presentation of 44 years. The lesions were in the right hepatic lobe: three cases, the left hepatic lobe: one case, and gastrohepatic ligament: one case. The preoperative clinicoradiological diagnoses were hepatocellular carcinoma (HCC), focal nodular hyperplasia, hemangioma, metastasis, and gastrointestinal stromal tumor, respectively. Surgical excision was performed in four cases with no further adjuvant therapy. Histopathological examination and subsequent immunophenotyping revealed a diagnosis of PEComa. Fluorescence in-situ hybridization analysis was performed for TFE3 gene rearrangement in four cases.
CONCLUSIONS: This series highlights the fact that accurate histological diagnosis of hepatic or perihepatic PEComas is important to prevent unnecessary aggressive treatment, unlike primary hepatocellular carcinomas or hepatoid/epithelioid metastatic tumors.
PMID:38427771 | DOI:10.4103/ijpm.ijpm_587_23
Front Biosci (Landmark Ed). 2024 Feb 21;29(2):75. doi: 10.31083/j.fbl2902075.
ABSTRACT
BACKGROUND: Cerebral Cavernous Malformations (CCMs) are brain vascular abnormalities associated with an increased risk of hemorrhagic strokes. Familial CCMs result from autosomal dominant inheritance involving three genes: KRIT1 (CCM1), MGC4607 (CCM2), and PDCD10 (CCM3). CCM1 and CCM3 form the CCM Signal Complex (CSC) by binding to CCM2. Both CCM1 and CCM2 exhibit cellular heterogeneity through multiple alternative spliced isoforms, where exons from the same gene combine in diverse ways, leading to varied mRNA transcripts. Additionally, both demonstrate nucleocytoplasmic shuttling between the nucleus and cytoplasm, suggesting their potential role in gene expression regulation as transcription factors (TFs). Due to the accumulated data indicating the cellular localization of CSC proteins in the nucleus and their interaction with progesterone receptors, which serve dual roles as both cellular signaling components and TFs, a question has arisen regarding whether CCMs could also function in both capacities like progesterone receptors.
METHODS: To investigate this potential, we employed our proprietary deep-learning (DL)-based algorithm, specifically utilizing a biased-Support Vector Machine (SVM) model, to explore the plausible cellular function of any of the CSC proteins, particularly focusing on CCM gene isoforms with nucleocytoplasmic shuttling, acting as TFs in gene expression regulation.
RESULTS: Through a comparative DL-based predictive analysis, we have effectively discerned a collective of 11 isoforms across all CCM proteins (CCM1-3). Additionally, we have substantiated the TF functionality of 8 isoforms derived from CCM1 and CCM2 proteins, marking the inaugural identification of CCM isoforms in the role of TFs.
CONCLUSIONS: This groundbreaking discovery directly challenges the prevailing paradigm, which predominantly emphasizes the involvement of CSC solely in endothelial cellular functions amid various potential cellular signal cascades during angiogenesis.
PMID:38420834 | DOI:10.31083/j.fbl2902075
Cureus. 2024 Jan 28;16(1):e53132. doi: 10.7759/cureus.53132. eCollection 2024 Jan.
ABSTRACT
Background Congenital/infantile fibrosarcoma is a rare soft tissue tumor presented in early age of life. It should be considered in the differential diagnosis of the large soft tissue masses especially in the extremities at the age of infancy. These tumors frequently are misdiagnosed at birth as hemangioma. Histologically, they can resemble their adult counterparts and they are characterized by the chromosomal translocation t(12;15) (p13;q25) resulting in the ETV6-NTRK3 gene fusion. Objective A retrospective review of the MRI features of histopathology-proven congenital/infantile fibrosarcoma provides our own institutional experience and supports the limited radiology literature written about this disease. Material and method The list of our patients is obtained after reviewing our radiology and pathology database in the period between June 1st, 2007 and May 31st, 2017 (10 years) at King Faisal Specialist Hospital & Research Center, Riyadh. Phrases used to search in our MRI examinations database are: congenital infantile fibrosarcoma, infantile fibrosarcoma, juvenile fibrosarcoma, soft tissue sarcoma, malignant soft tissue mass, sarcomatous soft tissue mass, fibrosarcoma, spindle cell sarcoma, myomatous sarcoma. Result In our database and picture archiving and communication system (PACS) during the period of the study, the word (fibrosarcoma) was mentioned in the radiology report of 182 patients. Only four cases were histopathologically proven to be a congenital/infantile fibrosarcoma and had completed their own MR exams - three of them were primary/new cases, males with an age range between 0 days and 5 months (median age: 5 months). The fourth case was a female with a history of 1st presentation at the age of one month and proved by histopathology examination but there was no available imaging at that time; however, tumor recurrence in the same patient was at the age of 4 years with available MR imaging and pathology sample. Conclusion Congenital infantile fibrosarcoma is a rare entity that has no specific MRI findings. However, it should be always considered as part of the differential diagnosis of congenital soft tissue masses with aggressive behavior.
PMID:38420085 | PMC:PMC10899809 | DOI:10.7759/cureus.53132
J Pak Med Assoc. 2024 Feb;74(2):394-397. doi: 10.47391/JPMA.9033.
ABSTRACT
Sturge- Weber syndrome (SWS), is a rare neuro-cutaneous angiomatosis which affects male and females alike. The clinical manifestations include angiomas, haemangiomas of the lips, tongue and palatine region. The oral manifestations are usually unilateral and are susceptible to bleed. Patients can also present with macroglossia and maxillary bone hypertrophy which can lead to malocclusion of the oral cavity. Food accumulation due to occlusion can cause growth of bacteria which can intensify infections and can cause gingival hyperplasia. A case of a middle-aged 39 year old female was reported in the Ziauddin Hospital, Karachi on 2nd of February,2022 with the presenting complaints of intermittent fever and drowsiness for 10 days. On examination she had massive tongue enlargement, drooling, malocclusion, difficulty in eating and breathing. She was a known case of Sturgeweber syndrome. Based on the clinical and radiological findings, she was managed along the lines of prelaryngeal soft tissue and submandibular infection.
PMID:38419245 | DOI:10.47391/JPMA.9033
J Med Imaging Radiat Sci. 2024 Feb 27:S1939-8654(24)00017-1. doi: 10.1016/j.jmir.2024.02.006. Online ahead of print.
ABSTRACT
In this case report, we address a rare entity of parotid cancer: basaloid squamous cell carcinoma, which was surgically unresectable and had thus far only been treated with radiation therapy. Following twenty years of continuous remission, our patient presented with an acute perimesencephalic subarachnoid hemorrhage. The cause of the acute perimesencephalic subarachnoid hemorrhage was a delayed complication of radiation therapy.
PMID:38418293 | DOI:10.1016/j.jmir.2024.02.006
Quant Imaging Med Surg. 2024 Feb 1;14(2):2128-2135. doi: 10.21037/qims-23-1651. Epub 2024 Jan 12.
NO ABSTRACT
PMID:38415141 | PMC:PMC10895138 | DOI:10.21037/qims-23-1651
Front Neurol. 2024 Feb 13;15:1309691. doi: 10.3389/fneur.2024.1309691. eCollection 2024.
ABSTRACT
BACKGROUND: Preoperative imaging for some unusual lesions in the sellar region can pose challenges in establishing a definitive diagnosis, impacting treatment strategies.
METHODS: This study is a retrospective analysis of eight cases involving unusual sellar region lesions, all treated with endoscopic endonasal transsphenoidal surgery (EETS). We present the clinical, endocrine, and radiological characteristics, along with the outcomes of these cases.
RESULTS: Among the eight cases, the lesions were identified as follows: Solitary fibrous tumor (SFT) in one case, Lymphocytic hypophysitis (LYH) in one case, Cavernous sinus hemangiomas (CSH) in one case, Ossifying fibroma (OF) in two cases; Sphenoid sinus mucocele (SSM) in one case, Pituitary abscess (PA) in two cases. All patients underwent successful EETS, and their diagnoses were confirmed through pathological examination. Postoperatively, all patients had uneventful recoveries without occurrences of diabetes insipidus or visual impairment.
CONCLUSION: Our study retrospectively analyzed eight unusual lesions of the sellar region. Some lesions exhibit specific imaging characteristics and clinical details that can aid in preoperative diagnosis and inform treatment strategies for these unusual sellar diseases.
PMID:38414554 | PMC:PMC10896968 | DOI:10.3389/fneur.2024.1309691
J Craniofac Surg. 2024 Feb 27. doi: 10.1097/SCS.0000000000010003. Online ahead of print.
ABSTRACT
Vascular diseases, such as vascular malformations and hemangiomas, are often classified into "fast-flow" and "slow-flow" based on their internal blood velocity. Fast-flow vascular diseases of maxillofacial regions are a kind of complicated and dangerous pathological changes originating from or containing arteries, their treatment is often complex and different from disease to disease, and large amounts of intraoperative blood loss and poor operation field may cause side injury or other problems without a detailed map of the lesion. The authors use the combination of color Doppler ultrasound and three-dimensional computed tomography angiography to diagnose and classify 36 cases of maxillofacial fast-flow vascular diseases, from January 2018 to December 2022 presented in the authors' department. Three-dimensional computed tomography angiography can display the location, type, and blood supply of lesions, whereas color Doppler ultrasound has unique advantages in identifying some special lesions (such as the colorful images of orificium fistulaes and the "Yin-yang sign" of pseudoaneurysms), then projecting and marking them on the body surface, which greatly facilitate the surgical procedure. This cost-effective and noninvasive combination shows significant clinical application value.
PMID:38411176 | DOI:10.1097/SCS.0000000000010003
Arch Cardiol Mex. 2024 Feb 19. doi: 10.24875/ACM.23000097. Online ahead of print.
NO ABSTRACT
PMID:38408333 | DOI:10.24875/ACM.23000097
Liver Int. 2024 Feb 26. doi: 10.1111/liv.15884. Online ahead of print.
ABSTRACT
A 37-year-old female patient was admitted to the hospital with a large liver mass, diagnosed as hepatic inflammatory myofibroblastic tumour (HIMT), characterized by unique radiographic features and predominantly occurring in adults. HIMT consists of myofibroblast spindle cells infiltrated by plasma cells and/or lymphocytes, with an unclear aetiology linked to factors like infection and immune response. Treatment typically involves surgical resection, with chemotherapy or targeted therapy options for cases of incomplete resection or metastasis, emphasizing the need for precise diagnosis and tailored treatment strategies.
PMID:38407558 | DOI:10.1111/liv.15884
Cureus. 2024 Jan 24;16(1):e52852. doi: 10.7759/cureus.52852. eCollection 2024 Jan.
ABSTRACT
Cavernous hemangioma of the bladder is a benign and very rare vascular tumor. It can be isolated or part of a syndrome. Neither clinical symptoms nor imaging modalities lead to a definitive diagnosis as there are no specific findings on imaging studies or specific symptoms. Painless gross hematuria is the most common chief complaint and presentation and should never be underestimated. Here, we report a case of a large hemangioma of the urinary bladder in a young man who presented with recurrent recent episodes of painless gross hematuria and, surprisingly, with a previous episode of painless hematuria 15 years ago, which was treated successfully with partial cystectomy. We discuss the clinical features, evaluation, diagnosis, biopsy, management, the challenges encountered in treatment, and assert the value of tissue diagnosis and follow-up pattern and period. Due to the rarity of the tumor and lack of trials and evidence-based guidelines for management, treatment modalities vary and the risk for recurrence is questionable and not known.
PMID:38406161 | PMC:PMC10885758 | DOI:10.7759/cureus.52852
J Indian Assoc Pediatr Surg. 2024 Jan-Feb;29(1):75-77. doi: 10.4103/jiaps.jiaps_163_23. Epub 2024 Jan 12.
ABSTRACT
Hemangiomas are rare small bowel tumors requiring a high index of suspicion for diagnosis. We present a case of ileal hemangioma in a 3-year-old male presenting with recurrent anemia. The patient was diagnosed with a contrast-enhanced computed tomography abdomen and managed surgically by resection and anastomosis. Histopathologically, it was a solitary ileal cavernous hemangioma with a submucosal infiltrative pattern with serosa involvement and a normal mucosa.
PMID:38405254 | PMC:PMC10883179 | DOI:10.4103/jiaps.jiaps_163_23
BMJ Case Rep. 2024 Feb 22;17(2):e259892. doi: 10.1136/bcr-2024-259892.
NO ABSTRACT
PMID:38388199 | PMC:PMC10884262 | DOI:10.1136/bcr-2024-259892
Intern Med. 2024 Feb 26. doi: 10.2169/internalmedicine.2898-23. Online ahead of print.
ABSTRACT
Post-transplant lymphoproliferative disorders (PTLDs) are lymphoproliferative diseases that occur after solid organ transplantation or hematopoietic stem cell transplantation (HSCT). The development of PTLD is often associated with reactivation of Epstein-Barr virus (EBV). A 26-year-old woman with a history of HSCT and total-body irradiation developed spinal cord hemorrhage from a radiation-induced cavernous hemangioma (RICH) shortly after the development of classical Hodgkin lymphoma PTLD with EBV reactivation. Although little is known about the factors leading to hemorrhagic events from spinal cord RICH, we suspect that EBV reactivation may have been a factor contributing to the hemorrhage in the present case.
PMID:38403773 | DOI:10.2169/internalmedicine.2898-23
J Plast Reconstr Aesthet Surg. 2024 Feb 1;91:47-55. doi: 10.1016/j.bjps.2024.01.019. Online ahead of print.
ABSTRACT
BACKGROUND: Laser therapy is a treatment for infantile haemangiomas. The efficacy of laser therapy for red lesions is determined by visual evaluation; however, this assessment is inaccurate and lacks objectivity.
OBJECTIVE: To scientifically validate the consistency between pre- and post-treatment visual assessment grades for infantile haemangioma treated with pulsed dye laser (PDL) and the values calculated from images obtained with Antera 3D™.
METHODS: This study involved 81 cases of infantile haemangiomas treated with PDL alone from 2012 to 2015 and with Antera 3D™ images of the lesions. Using images obtained before treatment and 4-6 weeks after the last treatment, the lesions were rated using a visual four-step scale. Ratings were categorised as Poor/Fair/Good/Excellent by the degree of improvement in the red colour tone. The red colour ratio was calculated using the haemoglobin distribution in the lesion and surrounding skin, and the improvement difference and improvement rate were then obtained. The correlation between the improvement difference and improvement rate, and visual evaluation was statistically analysed.
RESULTS: No serious adverse effects were observed, with an average of 4.3 treatments per patient; 60.1% of the patients achieved Good/Excellent results. There were statistically significant differences in the post-treatment red colour ratio and improvement ratio in each category after visual evaluation classification. The improvement rate and the four visual grades were statistically correlated.
CONCLUSION: This study confirmed the scientific validity of visual evaluation and the evaluation criteria calculated from Antera 3D™. This method could objectively determine treatment effectiveness.
PMID:38401278 | DOI:10.1016/j.bjps.2024.01.019
Life (Basel). 2024 Feb 7;14(2):231. doi: 10.3390/life14020231.
ABSTRACT
Nonlinear microscopy (NM) enables us to investigate the morphology or monitor the physiological processes of the skin through the use of ultrafast lasers. Fiber (or fiber-coupled) lasers are of great interest because they can easily be combined with a handheld, scanning nonlinear microscope. This latter feature greatly increases the utility of NM for pre-clinical applications and in vivo tissue imaging. Here, we present a fiber-coupled, sub-ps Ti-sapphire laser system being optimized for in vivo, stain-free, 3D imaging of skin alterations with a low thermal load of the skin. The laser is pumped by a low-cost, 2.1 W, 532 nm pump laser and delivers 0.5-1 ps, high-peak-power pulses at a ~20 MHz repetition rate. The spectral bandwidth of the laser is below 2 nm, which results in a low sensitivity for dispersion during fiber delivery. The reduction in the peak intensity due to the increased pulse duration is compensated by the lower repetition rate of our laser. In our proof-of-concept imaging experiments, a ~1.8 m long, commercial hollow-core photonic bandgap fiber was used for fiber delivery. Fresh and frozen skin biopsies of different skin alterations (e.g., adult hemangioma, basal cell cancer) and an unaffected control were used for high-quality, two-photon excitation fluorescence microscopy (2PEF) and second-harmonic generation (SHG) z-stack (3D) imaging.
PMID:38398740 | PMC:PMC10889949 | DOI:10.3390/life14020231
Biomedicines. 2024 Jan 23;12(2):258. doi: 10.3390/biomedicines12020258.
ABSTRACT
Intussusceptive angiogenesis (IA) and intussusceptive lymphangiogenesis (IL) play a key role in the growth and morphogenesis of vessels. However, there are very few studies in this regard in vessel tumors (VTs). Our objective is to assess the presence, characteristics, and possible mechanisms of the formation of intussusceptive structures in a broad spectrum of VTs. For this purpose, examples of benign and malignant blood and lymphatic VTs were studied via conventional procedures, semithin sections, and immunochemistry and immunofluorescence microscopy. The results demonstrated intussusceptive structures (pillars, meshes, and folds) in benign (lobular capillary hemangioma or pyogenic granuloma, intravascular papillary endothelial hyperplasia or Masson tumor, sinusoidal hemangioma, cavernous hemangioma, glomeruloid hemangioma, angiolipoma, and lymphangiomas), low-grade malignancy (retiform hemangioendothelioma and Dabska tumor), and malignant (angiosarcoma and Kaposi sarcoma) VTs. Intussusceptive structures showed an endothelial cover and a core formed of connective tissue components and presented findings suggesting an origin through vessel loops, endothelialized thrombus, interendothelial bridges, and/or splitting and fusion, and conditioned VT morphology. In conclusion, the findings support the participation of IA and IL, in association with sprouting angiogenesis, in VTs, and therefore in their growth and morphogenesis, which is of pathophysiological interest and lays the groundwork for in-depth molecular studies with therapeutic purposes.
PMID:38397861 | PMC:PMC10887293 | DOI:10.3390/biomedicines12020258
BMC Pediatr. 2024 Feb 23;24(1):138. doi: 10.1186/s12887-024-04638-w.
ABSTRACT
BACKGROUND: Hemangiomas, also called infantile hemangiomas (IH) or hemangiomas of infancy are the most frequently seen benign vascular tumors of infancy. Different types of hemangiomas are described in the literature. The current approach is to assess the risk and, if needed, first line treatment is to initiate systemic propranolol.
CASE PRESENTATION: A 3-month-old Caucasian female patient was brought as an outpatient. The main complaint was an infantile hemangioma in the facial area, which as per the parents' story appeared within a week of birth like a small reddish line and it rapidly grew. Systemic propranolol was proposed as a first-line treatment and the adverse effects were explained. The parents, afraid of the side effects, wanted to explore other possibilities such as topical timolol, however, since it had no effect, propranolol was initiated in the end. Hemangioma was completely reduced in size; however, a skin defect was detected. As per the dermatologist's counsel, topical cream was initiated. The skin defect was reduced but not fully healed. The child is still being monitored periodically.
CONCLUSION: After successful treatment of hemangioma, we identified a skin defect, which was very similar to steroid-induced skin atrophy. However, we cannot attribute this to a single factor. The only thing that can be concluded is that the subject needs a thorough studying, since rate of infantile hemangioma is high, and pediatricians need a clear management strategy of how to approach skin atrophy after successfully treating the hemangioma itself.
PMID:38395819 | PMC:PMC10885403 | DOI:10.1186/s12887-024-04638-w
Eur Ann Otorhinolaryngol Head Neck Dis. 2024 Feb 22:S1879-7296(24)00018-8. doi: 10.1016/j.anorl.2024.02.001. Online ahead of print.
ABSTRACT
INTRODUCTION: Description of neurological complications induced by intracranial hemangioma in infants and by the initiation of beta-blocker treatment (propranolol).
OBSERVATION: A 2-month-old infant was referred for grade 5 non-congenital unilateral peripheral facial palsy. Work-up revealed ipsilateral profound hearing loss and two intracranial hemangiomas: one in the ipsilateral internal auditory canal (IAC), the other in the cerebellum opposite the nodule of vermis. Initial treatment with a beta-blocker (propranolol 1mg/kg/day for 1month, then 3mg/kg/day) resulted in disappearance of symptoms and regression of lesions within 8weeks. At 20months after introduction of maintenance therapy (propranolol 3mg/kg/day), two asthma attacks occurred, leading to initiation of fluticasone and continuation of the beta-blocker. Thirty months after discontinuation of treatment, no further progression was noted.
DISCUSSION: Unilateral facial palsy in an infant suggests a number of diagnoses. MRI revealed IAC hemangioma. The choice of dosage and duration of treatment was based on a review of the literature and a strategy defined in multidisciplinary consultation.
PMID:38395664 | DOI:10.1016/j.anorl.2024.02.001
Int J Surg Case Rep. 2024 Feb 22;116:109431. doi: 10.1016/j.ijscr.2024.109431. Online ahead of print.
ABSTRACT
INTRODUCTION AND IMPORTANCE: Ovarian cavernous hemangioma is a rare benign vascular tumor primarily found as either an isolated ovarian mass or as diffuse abdominopelvic hemangiomatosis. Its discovery is often incidental, but symptomatic presentations can occur, including ovarian torsion, can occur without any specification.
CASE PRESENTATION: We present the case of a 55-year-old menopausal woman with chronic pelvic pain. Initial diagnostic imaging and tumor markers suggested ovarian malignancy. Subsequent investigations, including ultrasound and MRI, revealed a vascularized adnexal mass with characteristics mimicking malignancy. Surgical exploration through laparoscopy unveiled an 8 cm multicystic solid-cystic lesion with histopathological analysis confirming a 9 cm cavernous hemangioma.
CLINICAL DISCUSSION: Histologically, the lesion displayed features consistent with a benign vascular malformation. Literature review indicates variability in presentations and diagnostic challenges in distinguishing these lesions from malignant ovarian tumors. Treatment involved successful cystectomy via laparoscopic surgery, ensuring ovarian preservation so as not to increase the cardiovascular risk due to bilateral annexectomy.
CONCLUSION: Ovarian cavernous hemangiomas pose diagnostic challenges due to their rarity and potential mimicry of malignancy. Timely recognition through imaging modalities, especially MRI, and confirmation via histopathological examination remain pivotal. Ovarian-sparing surgical interventions are recommended, particularly for younger patients without suspicious tumor features. Despite their rarity, awareness of these lesions is crucial for accurate diagnosis and appropriate management.
PMID:38394939 | DOI:10.1016/j.ijscr.2024.109431
Medicine (Baltimore). 2024 Feb 23;103(8):e37261. doi: 10.1097/MD.0000000000037261.
ABSTRACT
RATIONALE: Intercostal hemangioma (IH) is an extremely rare disease, with only 18 cases reported in the past 30 years. Herein, we report the first case of IH coexisting with multiple hepatic hemangiomas, which recurred 32 months after surgery with rib erosion. IHs are invasive and difficult to distinguish from other intercostal tumors on imaging. To date, there have been no review articles on the imaging findings of IHs. We hope that this article will help clinicians improve their ability to diagnose and treat IH.
PATIENTS CONCERNS: A 58-year-old male came to our hospital with gastrointestinal disease. Chest tumors were accidentally discovered on routine chest computed tomography (CT). The patient had no chest symptoms. The patient also had multiple liver tumors that had been present for 2 years but with no remarkable changes.
DIAGNOSIS: Plain chest CT revealed 2 adjacent masses protruding from the left chest wall into the thoracic cavity. Neurogenic tumors or hamartomas were suspected on enhanced CT scans. Abdominal contrast-enhanced computed tomography scan indicated multiple liver tumors as MMHs, which was consistent with the 2 previous Doppler ultrasound findings.
INTERVENTIONS: Surgeons removed the chest tumors by video-assisted thoracoscopic surgery. No treatment was provided for the MMHs.
OUTCOMES: Two tumors of the chest wall were diagnosed as the IHs. There were no significant changes in the hepatic tumors after 32 months of follow-up. Unfortunately, the IH recurred, and the left 5th rib was slightly eroded.
LESSONS: It is necessary to include IHs as a potential differential diagnosis for chest wall tumors because early clinical intervention can prevent tumor growth and damage to adjacent structures. The imaging findings of IH show special characteristics. Preoperative imaging evaluation and diagnosis of IH are helpful for safe and effective surgery. Because of the high recurrence rate, complete surgical resection of IH with a sufficient tumor-free margin is recommended. It should be noted that the ribs should also be removed when the surrounding ribs are suspected to have been violated.
PMID:38394533 | DOI:10.1097/MD.0000000000037261
Indian J Pathol Microbiol. 2023 Nov 9. doi: 10.4103/ijpm.ijpm_897_22. Online ahead of print.
ABSTRACT
Hemangiomatosis of the spleen is a benign vascular condition occurring as a manifestation of systemic angiomatosis. It is usually associated with Klippel-Trenaunay syndrome (KTS), which is a rare congenital malformation characterized by a triad of varicose veins, bony and soft tissue hypertrophy, and cutaneous and visceral hemangiomas and/or venous malformations. The association of splenic hemangiomatosis with KTS is less documented in the literature. In this report, we describe a 63-year-old female who presented with massive splenomegaly, the histopathology of which showed features of diffuse hemangiomatosis. Based on the histopathological diagnosis, a retrospective evaluation of the patient was carried out and she was diagnosed as KTS. To the best of our knowledge, this is the first report in the Indian literature describing splenic hemangiomatosis in a patient with KTS.
PMID:38394434 | DOI:10.4103/ijpm.ijpm_897_22
Med Oncol. 2024 Feb 23;41(3):76. doi: 10.1007/s12032-024-02305-9.
ABSTRACT
Alveolar soft-part sarcoma (ASPS) is a rare soft tissue tumor with a broad morphologic differential diagnosis. While histology and immunohistochemistry can be suggestive, diagnosis often requires exclusion of other entities followed by confirmatory molecular analysis for its characteristic ASPSCR1-TFE3 fusion. Current stain-based biomarkers (such as immunohistochemistry for cathepsin K and TFE3) show relatively high sensitivity but may lack specificity, often showing staining in multiple other entities under diagnostic consideration. Given the discovery of RNA in situ hybridization (RNA-ISH) for TRIM63 as a sensitive and specific marker of MiTF-family aberration renal cell carcinomas, we sought to evaluate its utility in the workup of ASPS. TRIM63 RNA-ISH demonstrated high levels (H-score greater than 200) of expression in 19/20 (95%) cases of ASPS (average H-score 330) and was weak or negative in cases of paraganglioma, clear cell sarcoma, rhabdomyosarcoma, malignant epithelioid hemangioendothelioma, as well as hepatocellular and adrenal cortical carcinomas. Staining was also identified in tumors with known subsets characterized by TFE3 alterations such as perivascular epithelioid cell neoplasm (PEComa, average H-score 228), while tumors known to exhibit overexpression of TFE3 protein without cytogenetic alterations, such as melanoma and granular cell tumor, generally showed less TRIM63 ISH staining (average H-scores 147 and 96, respectively). Quantitative assessment of TRIM63 staining by RNA-ISH is potentially a helpful biomarker for tumors with molecular TFE3 alterations such as ASPS.
PMID:38393424 | PMC:PMC10891236 | DOI:10.1007/s12032-024-02305-9
Indian J Pathol Microbiol. 2023 Jul 10. doi: 10.4103/ijpm.ijpm_452_22. Online ahead of print.
ABSTRACT
Sclerosing angiomatoid nodular transformation (SANT) is a reactive non-neoplastic, rare vascular lesion of the spleen. The histology shows multiple angiomatoid nodules surrounded by proliferative stroma. A 31-year-old lady presented with an abdominal mass for 6 months. Contrast-enhanced computed tomography (CECT) abdomen was suggestive of hemangiopericytoma/hemangioendothelioma. An open splenectomy was performed, and the resected specimen was sent for histopathology examination. The gross examination showed a bosselated mass present at the lower pole of the spleen measuring 8 × 8 cm with peripherally located coalescing red-brown nodules embedded in a dense fibrous stroma on the cut surface. On microscopy, multiple circumscribed angiomatoid nodules comprising irregular slit-like vascular channels lined by plump endothelial cells were seen embedded in dense sclerotic stroma. Because of the lack of specific diagnostic features, it is difficult to diagnose SANT clinically and radiologically. However, the typical histopathological findings are a clue in clinching the diagnosis.
PMID:38391371 | DOI:10.4103/ijpm.ijpm_452_22
Indian J Pathol Microbiol. 2023 Jul 10. doi: 10.4103/ijpm.ijpm_596_22. Online ahead of print.
ABSTRACT
Schwannoma is a benign neoplasm of the peripheral nerve sheath, arising from Schwann cells. Perianal schwannomas are very rare tumors with few cases reported in the literature. Here, we report a case of a perianal schwannoma in 26-year-old male, close to the anal sphincter, which was perceived as cavernous hemangioma radiologically on magnetic resonance imaging. Complete excision is necessary to avoid recurrences. A cautious and skillful surgical resection was performed with preservation of anal sphincter to avoid anal incontinence. We provide a short summary of clinical, radiological and surgical, and histopathological features of this rare entity.
PMID:38391323 | DOI:10.4103/ijpm.ijpm_596_22
Indian J Pathol Microbiol. 2023 Jul 26. doi: 10.4103/ijpm.ijpm_995_22. Online ahead of print.
ABSTRACT
Pseudomyogenic hemangioendothelioma (PHE) is an uncommon mesenchymal neoplasm of intermediate malignant potential showing endothelial differentiation. Around 20 cases of primary osseous PHE have been reported to date. A 16-year-old boy presented with complaints of pain in his right leg. Imaging revealed multifocal intramedullary and cortical-based lytic lesions involving long and small bones. Microscopic examination revealed plump, spindled cells arranged in fascicles and admixed "epithelioid" and "rhabdoid" cells sans vasoformative areas. By immunohistochemistry, the lesional cells were reactive for AE1/AE3, CD31, Erg, Fli1, and SMA, while immunonegative for CD34, myogenin, and S100. Nuclear expression of the INI1/SMARCB1 protein was retained. PHE is a rare entity, more so as a primary osseous lesion; therefore, awareness of the presence of this entity in the bone is the key to making a diagnosis. We discuss its clinicopathological features, differential diagnosis, and an attempt a short review of the literature.
PMID:38391317 | DOI:10.4103/ijpm.ijpm_995_22
Indian J Pathol Microbiol. 2023 Jul 19. doi: 10.4103/ijpm.ijpm_948_22. Online ahead of print.
ABSTRACT
We report an unusual presentation of an orbital spindle cell hemangioma in a 40-year-old male, who noted sudden redness and swelling of the left eye on waking up. On examination, the patient was found to have edema of upper eyelid edema, periorbital ecchymosis, and subconjunctival hemorrhage in the left eye at presentation. On treatment with topical medications, patient had transient symptomatic relief; however, he later developed blurring of vision. When seen 10 days later, the patient's left eye showed axial proptosis. Radiological investigations revealed an intraconal soft tissue mass in the left medial rectus. Emergency orbital decompression with mass excision was done; histopathological examination of the excised mass revealed spindle cell hemangioma. Postsurgery patient had complete restoration of vision. To our knowledge, an acute presentation of an orbital hemangioma with subconjunctival hemorrhage and periorbital ecchymosis, visual loss doesn't occur commonly; hence, such presentations have to be reviewed with care.
PMID:38391307 | DOI:10.4103/ijpm.ijpm_948_22
Glob Pediatr Health. 2024 Feb 20;11:2333794X241227043. doi: 10.1177/2333794X241227043. eCollection 2024.
ABSTRACT
Diffuse neonatal hemangiomatosis (DNH) is an infrequent condition characterized by the simultaneous occurrence of multiple cutaneous hemangiomas and the involvement of 3 or more organs. DNH is suspected when multiple hemangiomas are identified on the skin of the infant. Although it is benign in nature, DNH can lead to critical and life-threatening complications. Diagnosis primarily relies on clinical evaluation with a significant emphasis on imaging techniques. In this case report, we present an unusual pediatric case of diffuse infantile hemangioendothelioma, for which the investigative approach included ultrasound and CT scans. These imaging methods were instrumental in revealing the presence of lesions in the liver, thyroid, and brain, ultimately playing a pivotal role in making the diagnosis of DNH. A positive clinical and biological improvement was observed with corticosteroid treatment during a 3-month follow-up.
PMID:38390577 | PMC:PMC10883114 | DOI:10.1177/2333794X241227043
Indian J Nucl Med. 2023 Oct-Dec;38(4):402-403. doi: 10.4103/ijnm.ijnm_65_23. Epub 2023 Dec 20.
ABSTRACT
We report a case of a patient performing a positron emission tomography-computed tomography (PET-CT) scan with [18F]F-Choline for biochemical relapse (Prostate specific antigen (PSA) 1.2 ng/ml) of prostate cancer. Two large areas of focal uptake with a cold core within the liver were observed. A contrast-enhanced ultrasound scan performed after the PET scan characterized these lesions as cavernous hepatic hemangiomas, and therefore, a biopsy was not performed; 3 years of follow-up and PET and MRI finding stability confirmed the benignity of their nature.
PMID:38390548 | PMC:PMC10880850 | DOI:10.4103/ijnm.ijnm_65_23
Zhonghua Yi Xue Za Zhi. 2024 Feb 27;104(8):608-613. doi: 10.3760/cma.j.cn112137-20230728-00112.
ABSTRACT
Objective: The ultrasonography features of alveolar soft part sarcoma (ASPS) and intramuscular capillary-type hemangiomas (ICTH) were analyzed, and the diagnostic model of ASPS was established. Methods: A cross-sectional study was carried out. The clinical data of 52 patients [28 males and 24 females, aged (20.7±15.1) years] with pathologically confirmed ASPS and ICTH admitted to People's Hospital of Henan Province from January 2005 to February 2023 were included in the study. According to pathological types, the patients were divided into ASPS group and ICTH group. Clinical data of patients were retrospectively collected, and meaningful indicators in the univariate analysis were included in the regression analysis for screening. After comprehensive consideration of clinical significance and statistical significance, eligible indicators were selected for inclusion in the regression analysis. Binary logistic regression analysis was used to screen the factors that distinguished the pathological types of ASPS and ICTH, and the diagnostic model was established. The area under receiver operating characteristic (ROC) curve (AUC) was used to evaluate the diagnostic effectiveness of the diagnostic model in distinguishing ASPS from ICTH. Results: There were 20 patients in ASPS group, 10 males and 10 females, aged (26.9±13.5) years, and 32 patients in ICTH group, 18 males and 14 females, aged (16.8±15.0) years. The age difference between the ASPS group and the ICTH group was statistically significant (P<0.05), and there were statistically significant differences in the ultrasound imaging features of "clear boundary" "peripheral lobe" "thin blood vessels inside the lesion are straight and out of shape" "intra-lesion liquification" "peripheral thick blood vessels" and "peripheral muscle fiber disruption" between the two groups (all P<0.001).Variables with clinical and statistical significance were selected as independent variables. Binary logistic regression analysis showed that peripheral muscle fiber interruption (OR=97.358, 95%CI:6.833-1 387.249) and internal thin blood vessels were flat and out of shape (OR=0.052, 95%CI:0.003-0.921) was the correlation factor to distinguish the pathological types of ASPS and ICTH. Two ultrasonic image features of "peripheral muscle fiber interruption" and "internal thin blood vessels are straight and out of shape" were used to establish the diagnostic model. The sensitivity of "peripheral muscle fiber interruption" diagnostic model was 81.3%, and the specificity was 95.0%. The AUC was 0.811(95%CI: 0.761-0.954). The sensitivity, specificity and AUC of the diagnosis model of "internal thin vessels with flat misshape" were 90.0%, 96.9% and 0.934(95%CI: 0.830-0.984). The sensitivity, specificity and AUC of the combined diagnosis model of "peripheral muscle fiber interruption" and "internal thin blood vessel straight out of shape" were 96.9%, 90.0% and 0.974(95%CI:0.877-0.999). Conclusion: Ultrasonography can be used to distinguish ASPS from ICTH, and the combined diagnostic model based on the two ultrasonic imaging features of "peripheral muscle fiber interruption" and "internal thin blood vessel straight out of shape" can further improve the diagnostic efficiency.
PMID:38389238 | DOI:10.3760/cma.j.cn112137-20230728-00112
Diagn Interv Imaging. 2024 Feb 21:S2211-5684(24)00043-3. doi: 10.1016/j.diii.2024.02.008. Online ahead of print.
NO ABSTRACT
PMID:38388250 | DOI:10.1016/j.diii.2024.02.008
Can J Ophthalmol. 2024 Feb 20:S0008-4182(24)00029-2. doi: 10.1016/j.jcjo.2024.01.017. Online ahead of print.
ABSTRACT
OBJECTIVE: To determine the types and frequency of lesions that can be misdiagnosed as choroidal or ciliary body melanomas (posterior uveal tract melanoma [PUM]).
METHODS: This is a retrospective, descriptive study examining data from patients referred to Hospital La Paz in Madrid with the diagnosis of possible PUM between January 2005 and March 2020. All patients referred for PUM were studied. In collaboration with an oncology-specialized ophthalmologic centre, each patient underwent a full ophthalmic examination, ultrasonography, and optical coherence tomography, with agreed clinical criteria used to differentiate melanomas from pseudomelanomas.
RESULTS: In our cohort of 715 patients, 48.9% had pseudomelanomas. Thirty-five different conditions were misdiagnosed as melanomas. The 5 most common conditions were choroidal nevus (40.5%), peripheral exudative hemorrhagic chorioretinopathy (12%), choroidal hemangioma (10.5%), choroidal metastasis (8%), and age-related macular degeneration (4%).
CONCLUSIONS: Altering the diagnosis and changing the treatment and prognosis for patients can be difficult for a referral centre. Herein we present the largest European cohort investigated and highlight the importance of identifying the correct diagnosis to prevent mistreatment and possible overtreatment. These misdiagnoses can have an emotional effect on patients and their families, which could be avoided with a correct diagnosis. We analyze the most common pseudomelanoma diagnoses to help physicians better diagnose patients in their care.
PMID:38387859 | DOI:10.1016/j.jcjo.2024.01.017
BMJ Case Rep. 2024 Feb 21;17(2):e255774. doi: 10.1136/bcr-2023-255774.
ABSTRACT
Intramuscular haemangiomas are benign tumours showing an extremely rare occurrence and making up less than 1% of all haemangiomas. The goal of this case report is to share our experience in treating a patient with an extremely rare intramuscular haemangioma, which occurred in the supraclavicular region VB level of the neck and extended towards the infraclavicular space, localised within and inferior to the trapezius muscle. The lesion was diagnosed by using multimodal imaging and a wide excision was performed with intraoperative feeding vessel ligation and a good postoperative result. The main difficulties regarding diagnosis and treatment include a lack of evidence-based guidelines, due to limited publications on this topic, the nature of the lesion frequently showing obscure anatomic localisation deep within muscles and unclear delineation, various anatomic origin requiring an individual treatment approach, inconclusive radiologic signs as well as non-specific symptoms.
PMID:38383129 | PMC:PMC10882406 | DOI:10.1136/bcr-2023-255774
J Invest Dermatol. 2024 Feb 19:S0022-202X(24)00113-1. doi: 10.1016/j.jid.2024.01.029. Online ahead of print.
ABSTRACT
Infantile hemangioma (IH) is the most prevalent vascular tumor during infancy, characterized by a rapid proliferation phase of disorganized blood vessels and spontaneous involution. IH possibily arises from a special type of multipotent stem cells called hemangioma stem cells (HemSCs), which could differentiate into endothelial cells, pericytes, and adipocytes. However, the underlying mechanisms that regulate the cell fate determination of HemSCs remain elusive. Here, we unveil KLF2 as a candidate transcription factor involved in the control of HemSCs differentiation. KLF2 exhibits high expression in endothelial cells in proliferating IH but diminishes in adipocytes in involuting IH. Using a combination of in vitro culture of patient-derived HemSCs and HemSCs implantation mouse models, we show that KLF2 governs the proliferation, apoptosis and cell cycle progression of HemSCs. Importantly, KLF2 acts as a crucial determinant of HemSCs' fate, directing their differentiation toward endothelial cells while inhibiting adipogenesis. Knockdown of KLF2 induces a pro-adipogenic transcriptome in HemSCs, leading to impaired blood vessel formation and accelerated adipocyte differentiation. Collectively, our findings highlight KLF2 as a critical regulator controlling the progression and involution of IH by modulating HemSCs' cell fate decisions.
PMID:38382868 | DOI:10.1016/j.jid.2024.01.029
Genes Chromosomes Cancer. 2024 Feb;63(2):e23226. doi: 10.1002/gcc.23226.
ABSTRACT
Epithelioid hemangioendothelioma (EHE) is a rare endothelial sarcoma associated with a high incidence of metastases and for which there are no standard treatment options. Based on disease-defining mutations, most EHEs are classified into two subtypes: WWTR1::CAMTA1-fused EHE or YAP1::TFE3-fused EHE. However, rare non-canonical fusions have been identified in clinical samples of EHE cases and are challenging to classify. In this study, we report the identification of a novel WWTR1::TFE3 fusion variant in an EHE patient using targeted RNA sequencing. Histologically, the tumor exhibited hybrid morphological characteristics between WWTR1::CAMTA1-fused EHE and YAP1::TFE3-fused EHE. In addition to the driver fusion, there were six additional secondary mutations identified, including a loss-of-function FANCA mutation. Furthermore, in vitro studies were conducted to investigate the tumorigenic function of the WWTR1::TFE3 fusion protein in NIH3T3 cells and demonstrated that WWTR1::TFE3 promotes colony formation in soft agar. Finally, as the wild-type WWTR1 protein relies on binding the TEAD family of transcription factors to affect gene transcription, mutation of the WWTR1 domain of the fusion protein to inhibit such binding abrogates the transformative effect of WWTR1::TFE3. Overall, we describe a novel gene fusion in EHE with a hybrid histological appearance between the two major genetic subtypes of EHE. Further cases of this very rare subtype of EHE will need to be identified to fully elucidate the clinical and pathological characteristics of this unusual subtype of EHE.
PMID:38380774 | DOI:10.1002/gcc.23226
Clin Nucl Med. 2024 Apr 1;49(4):375-376. doi: 10.1097/RLU.0000000000005117. Epub 2024 Feb 9.
ABSTRACT
We present intense radiotracer activity in a soft tissue density abutting the aortic arch of the left lung on 18 F-prostate-specific membrane antigen PET/CT scan in a patient with prostate cancer, mimicking metastatic disease from prostate cancer versus primary lung malignancy. 18 F-FDG PET/CT scan, however, shows no elevated FDG activity. The results of pathology examination from resected specimen are consistent with pulmonary hemangioma.
PMID:38377395 | DOI:10.1097/RLU.0000000000005117
Clin Nucl Med. 2024 Feb 8. doi: 10.1097/RLU.0000000000005076. Online ahead of print.
ABSTRACT
A 64-year-old man was referred for 18F-PSMA-1007 PET/CT scan for initial staging of biopsy-proved prostate adenocarcinoma. 18F-PSMA-1007 PET/CT showed focal intense 18F-PSMA-1007 of the prostate adenocarcinoma and a focal intense activity with SUVmax of 10.5 in the left ilium. The 18F-PSMA-1007-avid iliac bone lesion corresponded to a hemangioma, which was initially detected on pelvic MRI 13 months ago and remained stable in size. This case indicates that hemangioma should be included in the differential diagnosis of PSMA-avid iliac bone lesions.
PMID:38377381 | DOI:10.1097/RLU.0000000000005076
2024 Feb 14. In: PDQ Cancer Information Summaries [Internet]. Bethesda (MD): National Cancer Institute (US); 2002–.
ABSTRACT
This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about the treatment of childhood vascular tumors. It is intended as a resource to inform and assist clinicians in the care of their patients. It does not provide formal guidelines or recommendations for making health care decisions.
This summary is reviewed regularly and updated as necessary by the PDQ Pediatric Treatment Editorial Board, which is editorially independent of the National Cancer Institute (NCI). The summary reflects an independent review of the literature and does not represent a policy statement of NCI or the National Institutes of Health (NIH).
Surg Laparosc Endosc Percutan Tech. 2024 Feb 19. doi: 10.1097/SLE.0000000000001266. Online ahead of print.
ABSTRACT
BACKGROUND: Hemangiomas represent 3% of all benign esophageal tumors. Conventional esophagectomy is the standard treatment with its invasive nature and possible surgical complications. Now, less invasive techniques are used with better results. Endoscopic submucosal dissection (ESD) is one of the novel noninvasive methods used for en bloc removal of tumors. No available data about the use of ESD in removing esophageal hemangioma. Here, we studied the validity and safety of ESD as a minimally invasive procedure to remove esophageal hemangioma.
METHODS: Three patients were diagnosed with esophageal hemangioma and underwent ESD with en bloc resection. Endoscopic ultrasound (EUS) was performed before ESD to better evaluate the layer of origin and vascularity and guard against perforation. Patients were followed up postintervention to document possible complications.
RESULTS: Among the 3 studied patients, one presented with chronic abdominal pain, the second was complaining of dysphagia, and the third patient was diagnosed accidentally. Pathology reports confirmed the diagnosis of hemangiomas in all cases with no atypia and complete removal of the lesions. No complications were reported during the procedure or over the follow-up period.
CONCLUSIONS: ESD is a proper, minimally invasive method with good en bloc resection that can be used in cases of esophageal hemangiomas.
PMID:38372527 | DOI:10.1097/SLE.0000000000001266
Front Pharmacol. 2024 Feb 2;15:1280948. doi: 10.3389/fphar.2024.1280948. eCollection 2024.
ABSTRACT
Objective: This study explores the 22-year evolution of Infantile Hemangiomas (IHs) treatment strategies at a single-center hospital, aiming to establish an individualized IHs management protocol. Methods: Retrospective review of IHs infants 2000-2022 at the Department of Plastic Surgery, Jiangxi Provincial Children's Hospital. Results: In our study of 27,513 IHs cases, 72.2% were female, with the median age at first hospital visit being 25 days. The majority of cases had localized and superficial lesions primarily on the head, face, and neck (67.5%). Ulceration rates fell from 21.1% to 12.6% with the introduction of propranolol. Management strategies have shifted over time, with the proportion of cases undergoing expectant management dropping from 32.9% to 12.4%. Since 2008, 26.1% of patients were treated with oral propranolol, largely replacing corticosteroids. Topical β-blockers have been used in 12.1% of cases, leading to a reduction in local injection therapy from 20.8% to 13.2%. Laser therapy, introduced in 2016, has been used in 13.8% of cases, while surgical excision has dropped from 25.0% to 8.5% due to alternative treatment options. Combination therapy was used in 8.8% of cases post-2015, indicating a rising trend. Drawing from the evolution of IHs management strategies, an individualized protocol for the management of IHs was successfully established. Conclusion: Treatment for IHs has evolved over recent decades, with less invasive medical interventions increasingly replacing more invasive methods. Furthermore, a personalized treatment protocol established in this study could boost the cure rate of IHs while minimizing potential side effects and complications.
PMID:38370473 | PMC:PMC10869534 | DOI:10.3389/fphar.2024.1280948
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Feb 7;59(2):174-176. doi: 10.3760/cma.j.cn115330-20230824-00058.
ABSTRACT
上颌骨血管瘤在临床上较为罕见。本文报告了1例以鼻背部渐进性隆起为主诉的上颌骨血管瘤病例。患者女性,51岁,因“右鼻背部隆起6年”就诊。术前鼻窦CT及MRI示右侧上颌窦前内壁交界处骨性高密度肿物,内部密度欠均匀,呈蜂窝状,内部见放射状骨小梁,周围组织无破坏表现,考虑血管瘤可能性大。在全身麻醉下行泪前隐窝入路扩大切口,分离至梨状孔缘外侧充分暴露肿物后完整切除。该手术入路优势明显,可避免面部切口并能完整切除肿物,同时保留鼻腔鼻窦正常生理功能,创伤小,治疗效果好,具有一定临床推广应用价值。.
PMID:38369798 | DOI:10.3760/cma.j.cn115330-20230824-00058
Orphanet J Rare Dis. 2024 Feb 16;19(1):73. doi: 10.1186/s13023-024-03060-w.
ABSTRACT
BACKGROUND: To date, real-world evidence around the clinical and economic burden related to von Hippel-Lindau (VHL) disease is limited. Therefore, this study characterized the prevalence, healthcare resource utilization (HRU), and economic burden of von Hippel-Lindau-associated central nervous system hemangioblastoma (VHL-CNS-Hb) and pancreatic neuroendocrine tumors (VHL-pNET) in the United States (US).
METHODS: Patients with VHL-CNS-Hb or VHL-pNET were identified from Optum's de-identified Clinformatics® Data Mart Database (2007-2020) and matched 1:5 to control patients without VHL disease or CNS-Hb/pNET. Prevalence rates of VHL-CNS-Hb and VHL-pNET (standardized by age and sex) in 2019 were estimated. HRU and healthcare costs (2020 US dollars) were compared between the VHL-CNS-Hb/VHL-pNET and control cohorts.
RESULTS: In 2019, US prevalence rates of VHL-CNS-Hb and VHL-pNET were estimated to be 1.12 cases per 100,000 (3,678 patients) and 0.12 cases per 100,000 (389 patients), respectively. Patients with VHL-CNS-Hb (N = 220) had more inpatient, outpatient, and emergency department visits and $49,645 higher annual healthcare costs than controls (N = 1,100). Patients with VHL-pNET (N = 20) had more inpatient and outpatient visits and $56,580 higher annual healthcare costs than controls (N = 100). Costs associated with surgical removal of CNS-Hb and pNET were particularly high.
CONCLUSIONS: In this retrospective, claims-based study, both VHL-CNS-Hb and VHL-pNET were associated with substantial HRU and healthcare costs, particularly tumor reduction surgery-related costs. These findings provide important insight for healthcare payers regarding the expected real-world costs that enrollees with VHL-CNS-Hb and VHL-pNET may incur over the course of their disease.
PMID:38365728 | PMC:PMC10873931 | DOI:10.1186/s13023-024-03060-w
Biochem Biophys Res Commun. 2024 Mar 15;701:149525. doi: 10.1016/j.bbrc.2024.149525. Epub 2024 Jan 12.
ABSTRACT
Angiogenesis, a finely regulated process, plays a crucial role in the progression of various diseases. Cerebral cavernous malformation 3 (CCM3), alternatively referred to as programmed cell death 10 (PDCD10), stands as a pivotal functional gene with a broad distribution across the human body. However, the precise role of CCM3 in angiogenesis regulation has remained elusive. YAP/TAZ, as core components of the evolutionarily conserved Hippo pathway, have garnered increasing attention as a novel mechanism in angiogenesis regulation. Nonetheless, whether CCM3 regulates angiogenesis through YAP/TAZ mediation has not been comprehensively explored. In this study, our primary focus centers on investigating the regulation of angiogenesis through CCM3 knockdown mediated by YAP/TAZ. Silencing CCM3 significantly enhances the proliferation, migration, and tubular formation of human umbilical vein endothelial cells (HUVECs), thereby promoting angiogenesis. Furthermore, we observe an upregulation in the expression levels of VEGF and VEGFR2 within HUVECs upon silencing CCM3. Mechanistically, the evidence we provide suggests for the first time that endothelial cell CCM3 knockdown induces the activation and nuclear translocation of YAP/TAZ. Finally, we further demonstrate that the YAP/TAZ inhibitor verteporfin can reverse the pro-angiogenic effects of siCCM3, thereby confirming the role of CCM3 in angiogenesis regulation dependent on YAP/TAZ. In summary, our findings pave the way for potential therapeutic targeting of the CCM3-YAP/TAZ signaling axis as a novel approach to promote angiogenesis.
PMID:38320423 | DOI:10.1016/j.bbrc.2024.149525
Skeletal Radiol. 2024 Feb 16. doi: 10.1007/s00256-024-04615-5. Online ahead of print.
ABSTRACT
Intra-articular tumours are uncommonly encountered in routine practice and may present diagnostic challenges to pathologists. Challenges unique to this site include distinction from more common reactive synovial conditions, which are far more common; histologic variability; superimposed reactive changes; and often, lack of provided clinicoradiological context. This article reviews the pathology of the synovial tumours and tumour-like lesions, including diagnostic pearls, pitfalls and rare entities.
PMID:38363417 | DOI:10.1007/s00256-024-04615-5
Cureus. 2024 Jan 15;16(1):e52341. doi: 10.7759/cureus.52341. eCollection 2024 Jan.
ABSTRACT
Infantile hemangioma is a common benign vascular tumor in children, but it is very unusual to be found intracranially. Our literature review identified 44 reported cases. Presentation can vary from asymptomatic to a life-threatening presentation that necessitates urgent surgical removal. There is no general consensus on management of these rare lesions and until recently, treatment was limited to surgery or pharmacological management with steroids, propranolol or interferon. We present a case of a four-week-old male infant with history of vomiting and increase in head circumference since birth. MRI of the brain revealed a large complex cyst occupying the right frontoparietal region, with round soft tissue component that is isointense on T1 and hyperintense on T2 weighted images. Complete surgical resection with evacuation of the cyst was achieved. Histopathology of the mass showed infantile hemangioma with positive CD31 on immunohistochemistry. The patient achieved an excellent outcome following surgical resection.
PMID:38361697 | PMC:PMC10867379 | DOI:10.7759/cureus.52341
Cureus. 2024 Jan 16;16(1):e52389. doi: 10.7759/cureus.52389. eCollection 2024 Jan.
ABSTRACT
Circumscribed choroidal hemangiomas are rare and benign tumors but often have a progressive course and are complicated by retinal detachment and glaucoma. The effectiveness of external radiation for large tumors that are difficult to treat with photodynamic therapy was recently reported; however, few studies have conducted long-term follow-ups. We encountered a case of localized choroidal hemangioma that was treated with proton beam therapy and followed up for 15 years. A 37-year-old man was diagnosed with a 10 × 4 mm circumscribed choroidal hemangioma involving the macular area with retinal detachment. Proton beam therapy was performed at 26.4 Gy relative biological effectiveness (RBE) in 8 fractions. The choroidal hemangioma gradually shrank over three years, and the retinal detachment also improved. A cataract developed on the affected side 11 years after irradiation, and eye coordination issues developed 15 years after irradiation. Glaucoma was not observed during the follow-up period; however, visual acuity did not recover, and the patient developed light perception. Although vision was not preserved, proton beam therapy effectively shrank the tumor and maintained quality of life.
PMID:38361666 | PMC:PMC10868711 | DOI:10.7759/cureus.52389
Indian J Pathol Microbiol. 2024 Jan-Mar;67(1):102-106. doi: 10.4103/ijpm.ijpm_543_22.
ABSTRACT
BACKGROUND: Splenic sclerosing angiomatoid nodular transformation (SANT) is a rare benign nodular lesion in the red medulla of the spleen. In the past, SANT has not been consistently recognized as the name for this condition and was often misdiagnosed for other conditions. In recent years, SANT has been acknowledged by most scholars as multiple reports have been published.
AIM: To assess the clinicopathological features of SANT to identify the histological characteristics of SANT to improve diagnosis and clinical treatment.
MATERIALS AND METHODS: We assessed 25 cases of SANT diagnosed at Zhongshan Hospital affiliated with Fudan University from September 2014 to October 2021, including 14 men and 11 women, aged 24-62 years old.
RESULTS: Fourteen cases were complicated with benign tumors of the liver, pancreas, kidney, uterus, and prostate. One case was complicated with renal clear cell carcinoma, and one was complicated with hepatocellular carcinoma. The gross neoplasm is multinodular and well defined. Histologically, angiomatoid nodules are composed of fattened, round, or irregular blood vessels, with or without red blood cells in the lumen, with unequal red blood cell extravasation, and fibrocytes around the nodules. The hemangiomatous nodules were positive for CD31 and CD34, while the vascular wall smooth muscle cells and fibrocytes around the nodules were positive for SMA.
CONCLUSION: The diagnosis of SANT requires a combination of immunohistochemical and histological features, and early splenectomy is crucial for treatment.
PMID:38358197 | DOI:10.4103/ijpm.ijpm_543_22