An unusual case of aggressive malignant spread of epithelioid hemangioendothelioma.
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ABSTRACT:
SUBMITTER: Hickman AD
PROVIDER: S-EPMC8060744 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor with limited clinical data that can guide treatment choices. The diagnosis of EHE is based on its unique histological, immunohistochemical, and molecular characteristics. Differential diagnoses are broad and include autoimmune diseases. Treatments include hepatic resection, liver transplantation, systemic/regional chemotherapy, and radiotherapy. We describe EHE in a patient with weight loss and general weakness. The prognosis of EHE is variable, with few cases demonstrating an indolent clinical course, whereas others tend to metastasize. In our case, hepatic EHE had metastasized to the lungs and brain. Histopathological examination of the liver tissue revealed an epithelial hemangioendothelioma. On CK7 staining, hepatocytes were clearly reactive and arranged in the plates (CK7: negative), with positive immunohistochemical staining for CD34 (CD34: positive) alone. Surveillance was conducted and the clinical course was better than expected, probably due to her relatively good general condition, the lack of genetic factors associated with her familial medical history, and normal levels of tumor markers such as α-fetoprotein and carcinoembryonic antigen (CEA). During a follow-up examination, she was asymptomatic with a healthy general appearance. The prognosis of EHE is variable, with few cases demonstrating an indolent clinical course, whereas others tend to metastasize. The treatment method for EHE should be determined according to the patient's condition.
| S-EPMC11292091 | biostudies-literature
Project description:A 72-year-old female was referred for further evaluation of epigastralgia. Abdominal contrast computed tomography revealed numerous tumors in the two lobes of the liver. Liver biopsy and immunohistochemical staining revealed that the tumor cells were positive for factor VIII-associated antigen, platelet endothelial cell adhesion molecule 1 and human hematopoietic progenitor cell antigen, concordant with a diagnosis of hepatic epithelioid hemangioendothelioma (HEH). To elucidate the etiology of HEH, particularly the microRNA (miRNA) profiles, tissue samples obtained from normal and tumor tissues were analyzed using a miRNA array system. A total of 14 miRNAs were significantly upregulated and 93 miRNAs were downregulated in the tumor tissues (P<0.01). Additionally, unsupervised hierarchical clustering analysis using Pearson's correlation revealed that the tumor tissues clustered separately from the normal tissues. The miRNA expression profile was analyzed in HEH and compared with angiosarcoma, which exhibits histology similar to HEH. Out of a total of 107 miRNAs, only miR-122-5p and miR-1290 demonstrated a differential expression pattern in angiosarcoma. Therefore, these miRNAs may be novel biological markers for the determination of a diagnosis of HEH in primary mesenchymal tumors of the liver. To the best of our knowledge, this study is the first report of a miRNA microarray analysis in HEH.
| S-EPMC5403268 | biostudies-literature
Project description:We describe the case of an 18-year-old male Army reservist presenting with left lower extremity pain for which he was initially diagnosed with a stress injury. After failing conservative treatment, a radiograph was obtained showing a "lacelike" appearance of the medullary bone in the foot and ankle. Magnetic resonance imaging subsequently demonstrated widespread polyostotic marrow replacement with coarsened trabeculations. A biopsy was obtained which diagnosed the patient with polyostotic epithelioid hemangioendothelioma which is the most common malignant vascular tumor of bone. The patient ultimately underwent a below the knee amputation once computed tomography of the chest, abdomen, and pelvis excluded distant metastatic disease. It is important for radiologists to be aware of this diagnosis because osseous epithelioid hemangioendothelioma can present like a stress injury and be mistaken for a less serious diagnosis while potentially having visceral involvement.
| S-EPMC9063823 | biostudies-literature
Project description:Hepatic epithelioid hemangioendothelioma (HEHE) is a rare, often misdiagnosed malignancy of vascular origin. We describe a case of a 36-year-old, who presented with a burning sensation in his chest on exercise and was believed to have bilobar intrahepatic cholangiocarcinoma. After receiving chemotherapy with partial response, the patient underwent staged resection with modified associating liver partition with portal vein ligation for staged hepatectomy (ALPPS) procedure—laparoscopic radiofrequency-assisted ALPPS (RALPPS). Histological examination of the stage 1 specimen revealed HEHE deposits in the left lobe of the liver. The patient proceeded to have stage 2 open right hepatectomy with concurring histology. Ninety-day follow-up computed tomography scan showed almost complete resolution of HEHE lesions. Low incidence, non-specific clinical and radiological characteristics all contribute to high HEHE misdiagnosis rate. Histological analysis can be used for confirmation of the diagnosis; however, specialist staining is required, which is not routinely performed. Multiple treatments are available against HEHE, but only liver resection and liver transplantation are potentially curative. ALPPS and its modifications (such as RALPPS) offer an alternative from conventional two-stage hepatectomy for patients with extensive bilobar HEHE, who are at risk of developing post-hepatectomy liver failure or patients with anomalous hepatic vasculature anatomy which makes portal vein embolisation (PVE) challenging.
| S-EPMC9468985 | biostudies-literature
Project description:BackgroundEpithelioid hemangioendothelioma (EHE) is a rare sarcoma of the blood vessels. We report a patient with vascular EHE with delayed pulmonary metastasis, of which there are no previously known case reports.Case descriptionA 40-year-old female presents with a painful right groin mass and swelling in the lower extremity. A 3.8 cm soft tissue mass was identified in the femoral sheath with the abutment of the femoral artery on a computerized tomography (CT) scan. Surgical resection of the femoral vein was performed, and the final pathology confirmed a diagnosis of EHE. A second en-bloc resection of the femoral artery with bypass grafting was performed with clear surgical margins. The patient did well post-operatively with annual surveillance of the right groin as well as chest X-rays. However, the patient developed a metastatic Epithelioid hemangioendothelioma (EHE) to the right lower lobe, 12 years after the initial EHE treatment. She underwent a pulmonary resection with clear margins. The patient remains disease-free after one year. EHE is a rare soft tissue sarcoma with unpredictable clinical behavior. While most commonly presenting in the lung and liver they can also originate from any vascular system. Delayed pulmonary metastasis from vascular EHE has not been reported.ConclusionsOur case shows that indolent metastasis can occur in EHE, despite a prolonged disease-free interval. This case highlights the need for long-term surveillance with serial imaging of not only the primary site but pulmonary imaging beyond 5 years may be beneficial.
| S-EPMC9929661 | biostudies-literature
Project description:To elucidate the aetiology of HEH, especially with regard to microRNA (miRNA) profiles, samples obtained from three different parts of both normal and tumour tissues were analysed . The details of RNA extraction have been described in our previous reports. Interestingly, 16 miRNAs were significantly up-regulated and 51 miRNAs were down-regulated in the tumour tissues compared to the normal tissues (Studentâ??s t-test, p<0.01). In addition, unsupervised hierarchical clustering analysis using a Pearsonâ??s correlation showed that the tumour tissues clustered separately from the normal tissues. microRNA samples obtained from three different parts of both normal and tumour tissues were analysed
2016-03-15 | E-GEOD-66794 | biostudies-arrayexpress
Project description:Epithelioid hemangioendothelioma (EHE) is a rare vascular sarcoma that is associated with a WWTR1-CAMTA1 fusion gene in greater than 90% of cases. We aimed to investigate the transcriptional pathways activated in EHE. Total RNA was isolated from EHE tumors from surgical resection or autopsy specimens (n=6) followed by RNA-Seq. The results of this study identified a unique transcriptional profile for EHE and helped to validate a novel murine model of EHE.
2021-03-25 | GSE168493 | GEO
Project description:To elucidate the aetiology of HEH, especially with regard to microRNA (miRNA) profiles, samples obtained from three different parts of both normal and tumour tissues were analysed . The details of RNA extraction have been described in our previous reports. Interestingly, 16 miRNAs were significantly up-regulated and 51 miRNAs were down-regulated in the tumour tissues compared to the normal tissues (Student’s t-test, p<0.01). In addition, unsupervised hierarchical clustering analysis using a Pearson’s correlation showed that the tumour tissues clustered separately from the normal tissues.
2016-03-15 | GSE66794 | GEO
Project description:ImportanceEpithelioid hemangioendothelioma (EHE) is a rare, malignant vascular sarcoma characterized in most cases by a WWTR1-CAMTA1 fusion. The clinical course of EHE exhibits a dual nature. The condition is often indolent but can rapidly grow and metastasize unpredictably. No biomarkers to date are available to predict this phenotype. The hypothesis of this study was that better defining the genomic landscape of EHE using next-generation sequencing could offer additional therapies and insight into clinical outcomes.ObjectiveTo characterize secondary EHE genomic alterations and their association with clinical outcomes.Design, setting, and participantsMulticenter, cross-sectional, retrospective study of next-generation sequencing results collected from participants diagnosed with EHE. Data were abstracted between May 1, 2013, and May 31, 2019. This analysis was conducted from January through June 2019. Summary genomic data were provided by commercial genomic testing companies.Main outcomes and measuresPresence or absence of secondary pathogenic genomic variants and their association with disease stage and clinical features.ResultsA total of 49 participants with EHE were assessed for the presence or absence of secondary genomic variants. Of these, 32 (65.3%) were female; the mean (SD) age at diagnosis was 49.9 (18.3) years (range, 11-81 years). In all, 46 participants (93.9%) had confirmed WWTR1-CAMTA1 fusion; 26 participants (57.1%) exhibited a pathogenic genomic variant secondary to the WWTR1-CAMTA1 fusion; and 9 participants (18.4%) exhibited potentially targetable genomic variants. Commonly altered genes included CDKN2A/B, RB1, APC, and FANCA. Participants older than 45 years at diagnosis had an increased prevalence of secondary genomic variants that was not statistically significant (65.6% vs 38.5%; difference, 27.1%; 95% CI, -3.5% to 58.0%; P?=?.16) and were more likely to have a clinically targetable variant (28.1% vs 0%; difference, 28.1%; 95% CI, 11.2%-40.2%; P?=?.03). In 14 participants with clinical data available, those with stage III/IV EHE were more likely to exhibit a secondary pathogenic genomic variant (80% vs 0%; difference, 80%; 95% CI, 55.2%-100%; P?=?.006). Participants with stage III/IV EHE were diagnosed at an older age (mean [SD] age, 54.6 [14.1] years vs 31.7 [16.0] years; P?=?.05) and had elevated WWTR1-CAMTA1 fusion expression that was not statistically significant (mean [SD] expression, 677 [706] copies vs 231 [213] copies; P?=?.20).Conclusions and relevanceAlthough EHE exhibits few secondary genomic variants, presence of key secondary variants may be prognostic for aggressive EHE. Further research is needed to confirm this finding and determine whether more intensive upfront treatment is necessary for these patients.
| S-EPMC6777396 | biostudies-literature
Project description:Epithelioid hemangioendothelioma is a low-grade malignant vascular tumor with an intermediate clinical behavior between benign hemangiomas and high-grade angiosarcomas. Pathologic or molecular factors to predict this clinical heterogeneity are not well defined. A WWTR1-CAMTA1 fusion is present in most classic epithelioid hemangioendothelioma, regardless of their clinical behavior, suggesting that additional genetic abnormalities might be responsible in driving a more aggressive biology. A small subset of cases show distinct morphology and are characterized genetically by a YAP1-TFE3 fusion. Two histologic grades have been described in classic epithelioid hemangioendothelioma of the soft tissue. However, proposed criteria do not apply to other clinical presentations and have not been assessed in the YAP1-TFE3 positive tumors. Furthermore, no previous studies have compared the survival of these two molecular subsets. In this study we investigate the clinicopathologic and molecular findings of a large cohort of 93 translocation-positive epithelioid hemangioendothelioma managed at our institution. Patient characteristics, histologic features, treatment outcomes, and genetic abnormalities were investigated and these factors were correlated with overall survival. In 18 patients (15 with WWTR1-CAMTA1 and 3 with YAP1-TFE3) Memorial Sloan Kettering-IMPACT targeted DNA sequencing was performed to identify secondary genetic alterations showing more than half of tumors had a genetic alteration beyond the disease-defining gene fusion. Patients with conventional epithelioid hemangioendothelioma with WWTR1-CAMTA1 fusion had a less favorable outcome compared with the YAP1-TFE3 subset, the 5-year overall survival being 59% versus 86%, respectively. Soft tissue epithelioid hemangioendothelioma were frequently solitary, followed an uneventful clinical course being often managed with curative surgery. Multifocality, pleural involvement, lymph node or distant metastases had a significantly worse outcome. Patients with pleural disease or lymph node metastases had an aggressive clinical course akin to high-grade sarcomas, with 22% and 30%, respectively, alive at 5 years, compared with >70% survival rate in patients lacking these two adverse factors.
| S-EPMC7228463 | biostudies-literature