RARE DISEASE
Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma
Drug discovery
1
drug
With orphan designation
Overview
Epithelioid hemangioendothelioma (EHE) is an ultra-rare vascular sarcoma originating from endothelial cells, characterized by heterogeneous clinical behavior ranging from indolent to aggressive. It most commonly affects the liver, lungs, bones, and soft tissues, often presenting with multifocal or metastatic disease. Diagnosis requires immunohistochemical confirmation (CD31/CD34 positivity) and molecular testing for WWTR1::CAMTA1 or YAP1::TFE3 fusions. Management is individualized, with options including surveillance, surgery, radiation, and systemic therapies such as anti-angiogenics or mTOR inhibitors [1][8][16].
Burden
Prognosis varies widely: 3-year overall survival is 63.5%, dropping to 46% with distant metastases [2][6].
High symptom burden (e.g., pain, organ dysfunction) and impaired quality of life, particularly with multifocal disease [4][18].
No standardized treatment regimen; 41.7% present with metastatic disease, complicating management [2][16].
Therapies
Localized disease: Surgical resection or radiation (especially for bone involvement) [1][13].
Advanced/metastatic disease: Anti-angiogenic agents (e.g., apatinib, bevacizumab), mTOR inhibitors (e.g., sirolimus), or chemotherapy (doxorubicin/cyclophosphamide) [3][8][16].
Watch-and-wait approach for asymptomatic or indolent cases [1][16].
Categories: rare circulatory system diseases, rare developmental anomalies during embryogenesis, rare genetic diseases, rare neoplastic diseases
Research Papers
381 drug discovery papers about Epithelioid hemangioendothelioma, with 8 next-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
381 drug discovery papers about Epithelioid hemangioendothelioma, with 8 next-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
categories:
Small molecules
cell therapies
2026-06-30 | EVALUATION OF TREATMENT OUTCOMES AND PROGNOSTIC FACTORS IN PATIENTS AFTER LIVER TRANSPLANTATION DUE TO HEPATIC EPITHELIOID HEMANGIOENDOTHELIOMA
Introduction: Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor of low-to-intermediate malignant potential with an incompletely defined biological behaviour, exhibiting both benign and malignant features. It most commonly affects the liver, but may also involve other organs, such as the lungs and bones. Due to its heterogeneous clinical presentation and similarity to other vascular tumors primarily affecting the liver, misdiagnosis remains a common clinical challenge. Currently, several therapeutic approaches are used depending on various factors, but liver transplantation (LTx) is increasingly considered as the treatment option for patients with metastatic HEHE, particularly in unresectable cases. Several studies indicate a favorable prognosis following transplantation for HEHE. Aim of the Study: The aim of this study is to review the existing literature on treatment outcomes and to identify prognostic factors in patients undergoing LTx due to HEHE. Materials and Methods: A comprehensive literature review was performed using the PubMed database. Results and Conclusions: LTx is a crucial treatment option for patients with unresectable and multifocal HEHE. Current data indicate that post-transplant survival rates are favorable, with the potential to achieve durable, recurrence-free survival - even in the presence of extrahepatic metastases. Several prognostic factors have been identified that may influence post-transplant outcomes, including tumor burden, presence of extrahepatic disease (EHD), vascular invasion and tumor growth dynamics. In light of the limited efficacy of available systemic therapies, LTx should be considered the preferred treatment option in carefully selected patients with advanced HEHE. Nevertheless, long-term follow-up remains crucial to identify potential recurrence or complications.
2025-12-21 | Modular arthroplasty in patients with primary malignant periacetabular pelvic tumors: case reports
BACKGROUND: Treatment of patients with pelvic bone sarcomas is associated with a high rate of complications and poor outcomes. During reconstructive procedures in patients with malignant periacetabular tumors, modular hip endoprostheses incorporating a cup with a conical stem are increasingly used. CLINICAL CASE DESCRIPTION: A total of 15 cases of periacetabular resections with acetabular reconstruction using a modular LUMiC endoprosthesis were analyzed in patients aged 19–71 years with primary malignant tumors of the pelvic bones. The distribution by sex, age, and diagnosis was as follows: 14 men (93.3%) and 1 woman (6.7%); mean age, 47.1 years; chondrosarcoma in 11 cases (73.3%), osteosarcoma in 3 cases (20.0%), and epithelioid hemangioendothelioma in 1 case (6.7%). A combined surgical approach and an ilioinguinal–femoral approach were used in 10 and 5 patients, respectively. Resections in zones PI–II, PII, PII–III and PI–II–III were performed in 2, 5, 6, and 2 patients, respectively. Complications during a mean follow-up of 37.2 months (6–64 months) developed in 40.0% of cases. Mortality was 6.7% (one patient died in the early postoperative period due to acute myocardial infarction). Deep periprosthetic infection was detected in 3 patients (20.0%) at 3 and 12 weeks and 19 months; the endoprostheses were removed: neoarthrosis was created in 2 cases and interiliac–abdominal amputation was performed in 1 case. Dislocation in the early postoperative period occurred in 1 case (6.7%) due to violation of the orthopedic regimen and was managed by closed reduction. One patient (6.7%) developed persistent sciatic nerve neuropathy in the early postoperative period. No tumor progression was observed during the follow-up period. Aseptic loosening of the endoprostheses was not observed. Functional outcome according to the MSTS score was good or excellent in 10 of 15 cases, with a mean score of 69.7% (range, 16.7%–90%). CONCLUSION: Modular hip endoprostheses incorporating a cup with a conical stem appear to be a promising option for surgery in patients with primary malignant periacetabular pelvic tumors. However, according to our results and international data, the incidence of postoperative infectious complications (up to 25%) and dislocations (up to 19%) remains relatively high, indicating the need for further investigation.
2025-10-01 | S5852 To Transplant or Not to Transplant: A Case of Epithelioid Hemangioendothelioma
Introduction: Gastrointestinal malignancies encompass different cancers within the digestive tract/related organs and therapies are tailored accordingly. In some instances, liver transplant is a viable option for treatment. One malignancy in particular known as a rare vascular sarcoma called epithelioid hemangioendothelioma (EHE). This vascular tumor arises from the lining of blood vessels and occurs in various tissues and organs. In the liver, it can present as multifocal lesions mimicking metastatic disease or sometimes be misdiagnosed as cirrhosis. Usually, the findings are incidental on imaging. Due to the unpredictability of EHE, patients can experience indolent disease progression, while others suffer from aggressive metastasis or complications. We present a patient with EHE who underwent liver transplant. Case Description/Methods: A 72-year-old man with presumed cryptogenic cirrhosis, esophageal varices, and lung nodules presented for further evaluation of liver disease. He was found to have abnormal liver biochemistries on routine labs. Comprehensive liver workup was unremarkable. US showed a lobulated liver with multiple areas of heterogeneity. Subsequent magnetic resonance imaging (MRI) showed multiple hepatic masses concerning for malignancy. Recent bidirectional endoscopy reported small esophageal varices and a hyperplastic colon polyp. PET-CT showed innumerable hypermetabolic hypoattenuating hepatic masses concerning for malignancy and multiple pulmonary nodules measuring up to 7 mm. Recommendation was for liver biopsy to establish tissue diagnosis and discuss management at multidisciplinary tumor board. Biopsy showed EHE. Prior MRI was reviewed again with radiology which demonstrated a confluent process with well-defined MRI characteristics of EHE consistent with biopsy results. Standard treatment was for liver transplant due to risks of proliferation of disease with other treatment options. Additional staging with CT chest showed stable small lung nodules. The transplant committee listed the patient as active for transplant. He underwent an uncomplicated deceased donor transplant 12 months later. One-year post-transplant, a surveillance CT showed new and enlarging pulmonary nodules. He underwent wedge resection. Final pathology showed metastatic EHE. Discussion: Liver transplant remains the primary treatment for localized unresectable EHE. The unpredictable clinical course and variable prognosis underscores the importance of further prospective analysis on EHE and liver transplant.
2025-03-04 | Total talectomy and reconstruction using unrestricted 3D printed prosthesis for pediatric talus hemangioendothelioma.
Epithelioid hemangioendothelioma (EHE) is an ultra-rare vascular sarcoma with an extremely low incidence and prevalence, particularly in children. We report the case of a 9-year-old girl diagnosed with EHE. There are limited reconstruction methods available following total talus resection for vascular endothelioma of the talus, and the use of a 3D-printed talus prosthesis in pediatric cases has not been previously documented. A 9-year-old girl presented to our unit with swelling, pain, and limited mobility of the ankle for one month without an obvious cause. X-ray and CT imaging revealed osteolytic lesions in the talus, which was identified as a low-grade malignant tumor that had nearly completely invaded the talus and was surrounded by immature bone. The American Foot and Ankle Surgery Association (AOFAS) score was 75/100. We performed a total resection of the talus followed by unrestricted talus replacement. Three months post-operation, the child was able to walk unaided. Ankle function was assessed at 6 and 13 months post-surgery, with the AOFAS score improving from 75 to 91, indicating that her functional needs for daily life were largely met. Following complete excision of the lesion, the immature bone surrounding the talus was successfully preserved using an unrestricted 3D-printed prosthesis during ankle reconstruction. Our patient demonstrated satisfactory ankle function during the 6-month follow-up. This method is both safe and stable, yielding promising results, particularly for juvenile patients.
2025-01-27 | Outcomes of Liver Transplant for Hepatic Epithelioid Hemangioendothelioma.
Hepatic epithelioid hemangioendothelioma (HEH) is a rare indication of liver transplant with limited evidence. Adult recipients undergoing first-time liver-only transplant from 2002 to 2021 in the United States were identified using the UNOS/OPTN database. We compared post-transplant outcomes of recipients receiving liver transplant for HEH versus other diagnoses. Survival was visualized using Kaplan-Meier curves and compared using log-rank test and multivariable Cox regression. Propensity score matching for recipient age, sex, and MELD was performed, with baseline characteristics and survival compared between groups. Of 111 558 liver transplant recipients identified, 121 (0.1%) underwent transplant for HEH. Donors to HEH recipients were more often living donors. Recipients with HEH were younger, more likely to be female, and had lower BMI. Recipients with HEH had higher albumin, lower bilirubin, lower INR, and lower serum creatinine, as well as lower MELD scores and rates of ascites and encephalopathy. Similar post-transplant survival was observed for recipients with HEH (16.6 [lower 95% CI 14.9] years) and non-HEH diagnoses (13.8 [95% CI 13.6-13.9] years, log-rank p = 0.28), even after adjusting for baseline donor and recipient characteristics (aHR 1.28 [95% CI 0.94-1.74], p = 0.12). The propensity score matched cohort also had similar post-LT survival. This national study represents the largest known report on liver transplant for HEH. The survival of recipients with HEH was similar to other etiologies, supporting the use of liver transplantation (LT) in advanced HEH.
small molecules
2026-08-07 | Epithelioid Hemangioendothelioma: Challenges in Diagnosis and Management
Epithelioid hemangioendothelioma (EHE) is an ultra-rare endothelial neoplasm with intermediate malignant potential and markedly variable clinical behavior.Historically regarded as within the spectrum of vascular tumors between epithelioid hemangioma and epithelioid angiosarcoma, EHE is now recognized as a distinct, molecularly defined entity, most commonly driven by WWTR1-CAMTA1 or YAP1-TFE3 gene fusions.The liver, lungs, and bones are the most frequently involved sites, whereas involvement of the heart, spleen, breast, and the head and neck region is uncommon.Given the frequent hepatic involvement and the clinical relevance of rare primary gastrointestinal presentations, this review synthesizes current evidence on the epidemiology, molecular pathogenesis, diagnosis, prognostic assessment, and management of EHE, with particular attention to hepatic and gastrointestinal manifestations, liver-directed strategies, and emerging therapeutic approaches.
2026-06-19 | Disseminated hepatic epithelioid hemangioendothelioma with multiorgan metastases achieving long-term stability with Pazopanib: a case report.
Epithelioid Hemangioendothelioma (EHE) is a rare malignant vascular neoplasm with an unpredictable clinical behavior and often delayed diagnosis. The malignancy arises from many anatomical sites, with the liver being the most common primary site. This report portrays a young patient who presented atypically with a multifocal hepatic epithelioid hemangioendothelioma (HEHE) and highlights the challenges faced during the diagnosis and management of such rare malignancies. A 28-year-old male patient from Palestine presented with progressive headache associated with constitutional symptoms. Diagnostic imaging revealed disseminated disease throughout the body. CT-guided liver biopsy confirmed neoplastic cells arranged in small nests and individually, some of which showed intracytoplasmic vacuoles within a hyalinized stroma. Immunohistochemistry was positive for CD31, CD34 and FLI-1, supporting the endothelial origin. Metastatic HEHE was established; a biological treatment plan with Pazopanib (Votrient) was initiated, and the patient was followed for 4 years. During the follow-up period, serial imaging revealed no significant regression or progression of the lesions, indicating stable disease with the treatment used. The case emphasizes the clinical intricacy of HEHE, given its rarity, the lack of standardized treatment guidelines, and the tumor's unpredictable course. Specifically, this case illustrates these challenges within the Palestinian healthcare system.
2026-06-08 | Preoperative embolization and surgical resection of a hypervascular pediatric hemangioendothelioma with intra -extracranial extension: a case report
Abstract Background Hemangioendothelioma is a rare vascular tumor with biological behavior intermediate between hemangioma and angiosarcoma. It occurs more frequently in young adults than in children and most commonly involves the liver, lungs, lymph nodes, and bones. Combined intra- and extracranial involvement is exceptionally rare. The rarity of such cases necessitates careful analysis of the available literature to guide diagnostic evaluation, treatment strategies, and prognostic assessment. Case description We present a clinical case of a 10-year-old girl with a giant hypervascular epithelioid hemangioendothelioma of the cranial vault. The tumor was first diagnosed in 2023 as an intracranial mass in the frontotemporal region associated with bone destruction. Subsequently, the lesion demonstrated progressive aggressive growth, reaching giant dimensions with extension into the fronto-orbital, parietal, and temporal regions. Magnetic resonance imaging (MRI) and computed tomography (CT) revealed a hypervascular tumor measuring 13.5 × 7.0 × 12.4 cm with combined intra- and extracranial components. Digital subtraction angiography (DSA) confirmed tumor vascularization from branches of the external carotid artery. The feeding vessels were embolized using a liquid embolic agent. On the following day, radical surgical resection of the tumor was performed. Histopathological examination confirmed the diagnosis of epithelioid hemangioendothelioma. The postoperative course was uneventful, with gradual regression of clinical symptoms and no neurological deficit. Conclusion This case highlights the effectiveness of preoperative embolization as an adjunct to surgical resection of hypervascular cranial tumors in pediatric patients, significantly reducing intraoperative blood loss and related complications. Keywords: epithelioid hemangioendothelioma; preoperative embolization; gross total resection; intra-extracranial extension .
2026-06-01 | Data from A Phase 2 Study of Eribulin in Patients with Metastatic Angiosarcoma and Epithelioid Hemangioendothelioma
<div>AbstractPurpose:<p>Angiosarcoma and epithelioid hemangioendothelioma (EHE) are two rare vascular sarcomas with limited therapeutic options. Prior reports have shown sensitivity to microtubule-targeting agents in these histologies. We report the efficacy and safety of eribulin in these vascular sarcomas in a pooled analysis of two parallel phase 2 studies.</p>Patients and Methods:<p>Patients more than age 18 years with metastatic or recurrent angiosarcoma or EHE were treated with eribulin (1.4 mg/m<sup>2</sup> on days 1 and 8 of a 21-day cycle) until progression or unacceptable toxicity. The primary endpoint was objective response rate (ORR) by RECIST 1.1.</p>Results:<p>Twenty-nine patients were accrued to the study, with 25 (85%) having had prior taxane exposure. We observed an ORR of 17% for angiosarcomas, with 6 of 23 (26%) patients achieving disease stability for greater than 6 months, and an ORR of 33% (2/6) for EHE, with two of six continuing treatment for over 12 months. Five patients experienced a >1.3-fold time to progression ratio (TTP2/TTP1) on eribulin compared with the immediately prior therapy. Eribulin tolerability was consistent with published data.</p>Conclusions:<p>Eribulin showed clinical activity in this largely taxane-pretreated population. Future studies will be needed to confirm activity.</p><p><a href="https://aacrjournals.org/clincancerres/article-abstract/doi/10.1158/1078-0432.CCR-26-0064" target="_blank"><i>See related commentary by Chen, p. 2130</i></a></p></div>
2026-06-01 | Efficacy and Safety of Everolimus in Advanced Unresectable and Progressive Epithelioid Hemangioendothelioma: A Single-Center Case Series.
Epithelioid hemangioendothelioma (EHE) is an ultra-rare vascular sarcoma, with the liver and lungs as the predominant primary sites. To date, no standard systemic therapy has been established for advanced EHE. This study aimed to evaluate the efficacy and safety of everolimus in patients with advanced, unresectable, and progressive EHE. This case series retrospectively included 11 patients with advanced, progressive EHE who received systemic therapy with everolimus at our hospital spanning a 3-year period. The clinical outcomes, including time to treatment failure (TTF), overall survival (OS), objective response rate (ORR), disease control rate (DCR), and adverse events (AEs), were analyzed. The median follow-up time was estimated using the reverse Kaplan-Meier method. At the data cutoff (April 11, 2025), the median follow-up time was 21.9 months. The median TTF was 21.3 months, and median OS was not reached at the time of analysis. All 11 cases achieved stable disease (SD); the ORR was 0% (0/11), and the DCR was 100.0% (11/11). The most common AEs were mucositis accompanied by multiple oral ulcers (54.5%), which was limited to grade 1-2 severity. One patient (9.1%) experienced grade 3 upper gastrointestinal bleeding. Other AEs included interstitial pneumonia (27.3%), rash (18.2%), and thrombocytopenia (18.2%). No grade 4 or 5 AEs were observed. Everolimus showed preliminary activity, primarily disease stabilisation, in this small retrospective case series of patients with advanced, unresectable, and progressive EHE. Further studies with larger cohorts are warranted to validate these findings.
antibodies
2026-06-18 | Clinical benefit of paclitaxel/carboplatin plus bevacizumab with zoledronic acid in pulmonary epithelioid hemangioendothelioma complicated by hypertrophic pulmonary osteoarthropathy and cardiac tamponade: a case report.
Epithelioid hemangioendothelioma (EHE) is a rare vascular neoplasm lacking a standard systemic therapy. Pulmonary EHE (PEH) may be aggressive if accompanied by serosal effusion and has occasionally been reported in association with hypertrophic pulmonary osteoarthropathy (HPOA). Here, we report a case of a 33-year-old woman who had never smoked and presented with chronic cough, arthralgia, and digital clubbing. Imaging revealed a left upper lobe mass with mediastinal invasion, lymphadenopathy, and pericardial effusion. The patient developed cardiac tamponade that required emergent pericardial drainage. Histopathology from the transbronchial biopsy and mediastinal lymph node sampling showed an epithelioid endothelial tumor positive for CD31, D2-40, factor VIII, and ERG with nuclear CAMTA1 expression, confirming EHE. Bone scintigraphy and ankle magnetic resonance imaging revealed symmetric periosteal-predominant abnormalities consistent with HPOA. Zoledronic acid was administered for HPOA, and paclitaxel/carboplatin plus bevacizumab was initiated with palliative intent. Follow-up imaging during treatment showed marked reduction of the pericardial and pleural effusions, with improvement in arthralgia and activities of daily living. Although the benefit was transient, this case suggests that systemic chemotherapy in combination with bevacizumab may have contributed not only to temporary effusion control in advanced PEH but also to relief of PEH-associated HPOA, while concomitant zoledronic acid may also have supported symptom improvement.
2026-02-13 | Pathological complete remission of pulmonary epithelioid hemangioendothelioma: a case report and literature review.
This study aims to report a case of pulmonary epithelioid hemangioendothelioma (PEH) achieving pathological complete remission following neoadjuvant treatment, thereby enhancing clinical understanding of this rare disease and providing valuable treatment insights. The patient's imaging examination revealed a single large tumor on one side of the lung with lymph node metastasis. After treatment with albumin paclitaxel + carboplatin + bevacizumab, the tumor disappeared from the imaging findings, and postoperative pathology confirmed that the patient achieved pathological complete remission. PEH is rare in clinical practice and is a type of malignant tumor without characteristic clinical manifestations, and the diagnosis relies on pathological and immunohistochemical examinations. Single or few lesions can be treated surgically, whereas those that cannot undergo surgery can be treated with chemotherapy and targeted therapy.
2025-11-20 | Sintilimab combined with chemotherapy in advanced pulmonary epithelioid hemangioendothelioma: a case report and translational insights
Background Pulmonary epithelioid hemangioendothelioma (PEH) is an exceedingly rare vascular tumor, presenting a significant challenge due to its limited treatment options. Immunotherapy in combination with chemotherapy emerges as a potential frontier, yet the understanding of its application in PEH remains in its infancy. Methods A male patient initially faced misdiagnosis as having aspergillosis. Through histopathology and immunohistochemistry, a definitive diagnosis of PEH was later established. The treatment journey involved surgical resection, followed by chemotherapy with albumin-bound paclitaxel and carboplatin, and finally immunotherapy with sintilimab. Results A remarkable radiological improvement was observed post-sintilimab administration, leading to disease stabilization. Significantly, this is the first-ever report of the efficacy of sintilimab in PD-L1-high PEH, filling a critical gap in the existing literature. Conclusion This case not only underscores the potential of sintilimab in PD-L1-high PEH but also sets a precedent for further exploration of immune checkpoint inhibitors in this rare disease.
2024-07-01 | Dual immunotherapy alternating with anti-PD-1 antibody plus liposomal doxorubicin show good efficacy in prostate epithelioid hemangioendothelioma: a case report.
Epithelioid hemangioendothelioma is a rare vascular malignancy, and currently, there is no standard treatment regimen for this disease and existing treatment options have limited efficacy. In this case report, we present a patient with lung and lymph node metastases from prostate epithelioid hemangioendothelioma who achieved a significant partial response. This was accomplished through alternating nivolumab therapy with ipilimumab and liposomal doxorubicin, resulting in a progression-free-survival more than 6 months to date. The treatment was well-tolerated throughout. Our report suggests that dual immunotherapy alternating with anti-PD-1antibody plus doxorubicin may be a potential treatment modality for epithelioid hemangioendothelioma. However, larger sample studies are necessary to ascertain the effectiveness of this treatment strategy and it is essential to continue monitoring this patient to sustain progression-free survival and overall survival.
2023-03-17 | Epithelioid hemangioendothelioma of the retroperitoneal giant type treated with Toripalimab: A case report
Epithelioid hemangioendotheliomas (EHEs), low-grade malignant tumors of vascular endothelial cell origin, are characterized by vascular endothelial proliferation. In 2002, the World Health Organization classified EHEs as locally aggressive tumors with the potential to metastasize. Currently, the diagnosis of EHE is based on pathology, histological and immunohistochemical examinations. There are no standard treatment guidelines. We here report a 69-year-old man who presented with left-sided chest and abdominal pain for more than 2 months. Enhanced computed tomography of the thorax and abdomen in another hospital suggested a mass in the left adrenal region that was considered malignant. Positron emission tomography- computed tomography in our hospital suggested a large multi-loculated, hypermetabolic, cystic mass in the left adrenal region that was considered malignant. Accordingly, a puncture biopsy of the mass was performed and the diagnosis of EHE confirmed by pathological examination, including immunohistochemical staining. This patient was treated with the programmed death 1 (PD-1) immune checkpoint inhibitor toripalimab with long-term success. The best response was stable disease (SD) with a progression-free survival (PFS) of more than 13 months. The patient is still alive now. Because the sample size of previous studies was small, further studies are needed to determine the safety and efficacy of toripalimab in the treatment of EHE.
proteins
2026-08-07 | Fourteen-Year Course of Multiple Recurrent and Distantly Metastatic Hepatic Epithelioid Hemangioendothelioma With Serial Ki-67 Evolution: A Case Report
Objective:Rare disease Background:Hepatic epithelioid hemangioendothelioma (HEHE) is a rare vascular tumor of endothelial origin with variable clinical behavior, posing significant diagnostic and therapeutic challenges.Due to its nonspecific presentation and diverse imaging features, it is frequently misdiagnosed.We present a unique case of HEHE with recurrent liver involvement and distant metastases over a 14-year period, emphasizing diagnostic markers, treatment strategies, and the prognostic value of serial biomarker assessment. Case Report:A 48-year-old woman underwent right partial hepatectomy in 2011 after a routine health check-up incidentally revealed a liver lesion.Histological examination revealed characteristic epithelioid and dendritic tumor cells, confirmed by immunohistochemistry (CD31+, CD34+, Ki-67 5%).Postoperative surveillance detected tumor recurrence 7 years later in the left lobe, necessitating laparoscopic left partial hepatectomy.In 2020, further progression to the caudate lobe and regional lymph nodes prompted complex resection, with Ki-67 rising to 15%.Serial Ki-67 assessments across sequential specimens demonstrated a progressive increase in proliferative activity: 5% (2011), 15% (2020), and ultimately 40% in a pleural metastasis biopsy (2024), correlating closely with clinical progression.The patient received repeated surgical resections and adjuvant interferon alpha-2b, with palliative nab-paclitaxel attempted during the terminal stage but proving ineffective.The patient died in August 2025, approximately 14 years after initial diagnosis. Conclusions:This case highlights the importance of the Ki-67 index as a dynamic biomarker for monitoring tumor evolution and guiding treatment decisions in recurrent HEHE.Regular long-term follow-up and a multidisciplinary approach are crucial for managing this unpredictable neoplasm, given its potential for late recurrence and metastasis.
2024-09-23 | Diffuse skin erythematous plaque as a manifestation of epithelioid hemangioendothelioma: A case report.
Epithelioid hemangioma (EHE) is a rarely malignant tumor originating from the vascular endothelium. Morphological manifestations and immunohistochemical staining results are key to diagnosing EHE. Herein, we present a case of cutaneous involment in a recurrence of EHE. A 75-year-old woman presented with a month-long history of persistent erythematous plaque and pain in the left shoulder. Skin biopsy specimen revealed epithelioid tumor cells containing abundant eosinophilic cytoplasm. Immunohistochemical staining confirmed a recurrence of EHE involving the skin. Subsequently, recombinant human endostatin was administered. At the 10-day follow-up, the cutaneous plaque had improved, and the pain had resolved. When presenting as a local painful erythematous plaque, the possibility of skin involvement in a malignant tumor should be considered. Early diagnosis and early systemic therapy have an important impact on the overall survival of patients with EHE.
2022-03-01 | Outcomes of hepatic epithelioid hemangioendothelioma with different managements: a retrospective investigation.
Hepatic epithelioid hemangioendothelioma (HEH) is an extremely rare tumor, and no standard treatment has been established yet. This study aimed to retrospectively investigate the outcomes of different managements for HEH patients. From March 2014 to November 2019, a retrospective investigation was performed among 50 HEH patients to summarize the outcomes of different managements. Their medical records were collected, and the outcome of each management was evaluated based on radiological images. Of the 50 HEH patients examined, 80% were asymptomatic, and 94% had multiple intrahepatic lesions. Extrahepatic metastases were detected in 54% of patients, and 82% of patients were radiologically misdiagnosed. 16 (88.9%) of 18 patients with initial observation had progressive disease (PD). Of 12 patients with curatively intended surgery or radiofrequency ablation (RF), 10 (83.3%) of them had a recurrence. Six treated patients with interferon-α had results of 4 partial responses (PR), 1 complete response (CR), and 1 stable disease (SD). Of 6 patients with thalidomide, 4 patients had PD, and 2 patients had SD. Four patients treated with chemotherapy had 3 PD and 1 SD. Five patients treated with targeted therapy had 2 PR, 2 PD, and 1 SD. During our observation, we found that HEH patients had a high chance of PD. The risk of recurrence after surgery or RF was high. The encouraging result of interferon-α therapy makes it a promising treatment for HEH.
2021-11-01 | Efficacy and Safety of Interferon-Alpha 2b for Patients with Hepatic Epithelioid Hemangioendothelioma: Outcomes of a Case-Series Analysis
Hepatic epithelioid hemangioendothelioma (HEH) is a rare tumor type. No effective medicine or standard treatment for HEH has been established.From March 2014 to April 2021, 62 patients with pathologically diagnosed HEH were observed regularly, and interferon-alpha 2b (IFN-a 2b) was administered to patients with progressive disease or reoccurrence. Adverse events (AEs) were assessed and recorded, and a tumor assessment scan was performed every 3 months.A total of 42 patients with HEH received IFN-a 2b treatment in this study. No severe (grade ≥3) AEs were reported in the group overall. The most common treatment-related AEs in patients receiving IFN-a 2b were fever (50.0%) and fatigue (21.4%). Partial response and complete response were achieved in 20 patients (47.6%) and 2 patients (4.8%), respectively, and the objective response rate was 52.4%. Stable disease was observed in 12 patients (28.6%), and the disease control rate was 81.0%. Progressive disease was observed in 8 patients (19.0%). The 1-, 3-, and 5-year progression-free survival rates were 81.0%, 69.2%, and 62.3%, respectively. Only 1 patient died as a result of disease progression during the study. The 1-, 3-, and 5-year overall survival rates were 100%, 97.2%, and 97.2%, respectively.IFN-a 2b is a safe and effective treatment for patients with HEH. The encouraging results with IFN-a 2b use make it a promising option for patients who have other types of epithelioid hemangioendothelioma; additional clinical trials are needed.
2021-06-15 | Interferon-alpha 2b: An Effective Treatment for Hepatic Epithelioid Hemangioendothelioma
Abstract Background: Hepatic epithelioid hemangioendothelioma (HEH) is a rare tumor and no standard treatment has been established. This study was aimed to prospectively investigate the effect of interferon-alpha 2b (IFN-a 2b) for HEH patients. Methods: Since March 2014, a total of 62 pathologically diagnosed HEH patients were followed up regularly. IFN-a 2b was suggested to HEH patients with progressed disease. Safety was assessed each month and tumor assessment scan was performed every 3 months. The primary end point was objective response rate (ORR) and disease control rate (DCR). Results: A total of 42 HEH patients were finally included in this study. Median patient age was 35.5 years (range 18-65 years old). No severe (grade ≥3) adverse event (AE) of IFN-a 2b was reported in the whole group. The most common treatment-related AEs were fever (50.0%) and fatigue (21.4%). Two patients had grade 2 level hypothyroidism and 1 patient had grade 2 level of leukopenia and thrombocytopenia. Partial response and complete response were achieved in 20 (47.6%) and 2 (4.8%) patients, respectively, and the ORR was 52.4%. Stable disease was observed in 12 (28.6%) patients and the DCR was 81.0%. Progressive disease was observed in 8 (19.0%) patients. The 1, 3 and 5-year progression free rate were 81.0%, 69.2% and 62.3%, respectively. Only 1 patient died due to the progression of disease during the study. The1, 3 and 5-year overall survival rate were 100%, 97.2% and 97.2%, respectively. Conclusion: IFN-a 2b is a safe and effective treatment for HEH patients.
other
2025-07-14 | Contemporary Therapies in the Treatment of Hepatic Epithelioid Hemangioendothelioma
Hepatic epithelioid hemangioendothelioma (HEHE) is an extremely rare malignant vascular neoplasm with heterogeneous clinical behavior and difficult therapeutic management.This bibliographic review aims to review the most current scientific evidence on contemporary therapies used in the treatment of HEHE, highlighting the advances and challenges still present in clinical practice.A structured search was carried out on the Pub-Med database, covering publications from the last five years on the diagnosis, treatment and prognosis of the disease.The results show that although liver resection and liver transplantation remain the main therapeutic strategies, there is growing interest in systemic and locoregional therapies, including antiangiogenic agents, interferon alfa-2B, sirolimus, radiofrequency ablation and transarterial chemoembolization.However, the scarcity of standardized guidelines, the clinical heterogeneity of HEHE and the lack of approved systemic therapies make it difficult to establish uniform conduct and compromise clinical outcomes.This highlights the need to broaden health professionals' knowledge of the disease and to encourage robust research that contributes to the construction of more effective and personalized therapeutic protocols.
2025-02-26 | Nab-Paclitaxel Based Chemotherapy in the Treatment of Advanced Epithelioid Hemangioendothelioma: A Single-Institution Experience.
To evaluate the clinical efficacy of nab-paclitaxel based chemotherapy in the treatment of advanced epithelioid hemangioendothelioma (EHE). Since March 2022, chemotherapy has been recommended for patients with advanced EHE characterized by large tumors (liver tumors > 10 cm or tumors in other organs > 3 cm), rapid tumor progression, severe symptoms, serosal effusion, and treatment failure. Two chemotherapy regimens were administered: nab-paclitaxel plus bevacizumab and nab-paclitaxel plus sirolimus. Clinical data and outcomes were retrospectively analyzed. From March 2022 to August 2024, 21 patients with histologically confirmed EHE who received nab-paclitaxel based chemotherapy were included. At baseline, 18 patients (85.7%) presented with tumor-related symptoms, and serosal effusion was detected in 12 patients (57.1%). Among patients with hepatic EHE, six (28.6%) had tumors > 10 cm, while six (28.6%) with EHE at other sites had tumors > 3 cm. Partial response and stable disease were achieved in 5 (23.8%) and 12 (57.1%) patients, respectively, resulting in a disease control rate of 80.9%. Symptom relief was observed in 15 of 18 patients (83.3%), and decreased serosal effusion was noted in 6 of 12 patients (50.0%). The 1- and 2-year progression-free survival rates were 50.7% and 13.5%, respectively, while the 1- and 2-year overall survival rates were 70.6% and 51.5%, respectively. Nab-paclitaxel based chemotherapy may offer an effective treatment option for patients with advanced EHE exhibiting adverse prognostic factors. However, further clinical trials are required to confirm its efficacy.
2024-07-08 | Epithelioid hemangioendothelioma-its history, clinical features, molecular biology and current therapy.
Epithelioid hemangioendothelioma (EHE) is a remarkably rare tumor arising from endothelial cells that is classified as a vascular tumor in the WHO classification. The tumor is predominantly characterized by the presence of fusion genes, such as WWTR1-CAMTA1 or YAP1-TFE3, with a minority of cases exhibiting other rare fusion genes. EHE exhibits a broad age of onset, typically presenting at ~50 years, but it is not uncommon in pediatric populations. It manifests in a variety of organs, including the liver, lung, soft tissue and bone. Initial multiple-organ involvement is also observed. The tumor's biological behavior and prognosis vary substantially based on the primary site of manifestation. From a therapeutic perspective, initial active surveillance might be considered in selected cases, although surgical intervention remains the mainstay of treatment, especially for localized single-organ involvement. Chemotherapy is administered to patients with progressive unresectable tumors. Recent advances in the biological analysis of EHE fusion genes have elucidated their diverse functions. Additionally, next-generation sequencing has facilitated the identification of other mutations beyond the fusion genes. These continuous efforts to understand the biology of the fusion genes themselves and/or the dysregulated signaling by fusion genes are expected to lead to the development of novel therapeutic strategies for EHE. This article aims to provide a comprehensive review of EHE, encompassing its historical context, clinical manifestations, molecular biology and the current state of treatment.
2020-05-04 | Endothelial cell malignancies in infants, children and adolescents: Treatment results of three Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry.
Endothelial cell malignancies are extremely rare in childhood. New identification of genetic abnormalities (WWTR1:CAMTA1 translocation) helps to recognize potential therapeutic targets. Little is known about treatment and outcome of these patients. Clinical course, treatment, and outcome in patients with endothelial cell malignancies treated within the Cooperative Weichteilsarkom Studiengruppe (CWS) trials CWS-91, -96, -2002P, and the Soft-Tissue Sarcoma Registry (SoTiSaR) were analyzed (1991-2019). Patients had angiosarcoma (AS) (n = 12), malignant epithelioid hemangioendothelioma (EHE) (n = 16), and kaposiform hemangioendothelioma (KHE) (n = 13). The median age was 5.39 years (range, 0.8-17.34); 33 patients had localized disease (LD), and 8 patients had metastatic disease. Therapy consisted of chemotherapy (CHT) (AS n = 8, EHE n = 9, KHE n = 5), interferon or new agent therapy (EHE n = 5, 2 KHE n = 2), microscopically or macroscopically complete resection (AS n = 3, EHE n = 6, KHE n = 3), and radiotherapy (AS n = 6, EHE n = 2, KHE n = 1). Two patients (KHE) had watch-and-wait strategy resulting in stable disease. Complete remission (CR) was achieved in AS (10/12; 83%), EHE (10/16; 63%), and KHE (5/13; 38%). The five-year EFS and OS for patients with AS was 64% (± 29 CI 95%) and 80% (± 25, CI 95%), with EHE 62% (± 24, CI 95%) and 78% (± 23, CI 95%), with KHE 33% (± 34, CI 95%) and 92% (± 15, CI 95%), respectively. Complete resection was a significant prognostic factor for AS, LD for EHE. Endothelial cell malignancies in childhood have a fair outcome with multimodal treatment. New treatment options are needed for metastic disease.
2018-02-01 | Multicentric visceral epithelioid hemangioendothelioma, with extremity dermal deposits, unusual late recurrence on the nasal bridge, and TFE3 gene rearrangement
Epithelioid hemangioendothelioma (EHE) is a malignant neoplasm with vascular differentiation that most frequently occurs within soft tissues, bone, lung, and liver. It is histologically typified by epithelioid or spindle cells present singly or in cords or clusters, many with cytoplasmic vacuoles that can contain intraluminal erythrocytes (in keeping with primitive vascular differentiation), within myxohyaline or sclerotic matrix. Up to 50% present with synchronous lesions as multifocal disease. The WWTR1-CAMTA1 fusion has been demonstrated in EHEs at a variety of sites and is considered to represent its genetic hallmark. We describe a case of EHE in a patient who initially presented with multiple liver and pulmonary deposits, was found to have a soft tissue lesion in the foot, and then presented with further lesions on the nasal bridge and the arm approximately 6 years after initial presentation. Interestingly, the case showed diffuse CAMTA1 expression but negative TFE3 immunohistochemically, but in contrast showed TFE3 gene rearrangement with fluorescence in situ hybridization but no evidence of WWTR1-CAMTA1 translocation. The clinical behavior of EHE is unpredictable, and this case highlights unusual anatomic, immunohistochemical, and molecular cytogenetic findings. Characterization of the genetics of EHE is important because targeted therapies toward products of the specific WWTR1-CAMTA1 gene fusion may have an impact in the near future.
cell therapies
2026-06-30 | EVALUATION OF TREATMENT OUTCOMES AND PROGNOSTIC FACTORS IN PATIENTS AFTER LIVER TRANSPLANTATION DUE TO HEPATIC EPITHELIOID HEMANGIOENDOTHELIOMA
Introduction: Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor of low-to-intermediate malignant potential with an incompletely defined biological behaviour, exhibiting both benign and malignant features. It most commonly affects the liver, but may also involve other organs, such as the lungs and bones. Due to its heterogeneous clinical presentation and similarity to other vascular tumors primarily affecting the liver, misdiagnosis remains a common clinical challenge. Currently, several therapeutic approaches are used depending on various factors, but liver transplantation (LTx) is increasingly considered as the treatment option for patients with metastatic HEHE, particularly in unresectable cases. Several studies indicate a favorable prognosis following transplantation for HEHE. Aim of the Study: The aim of this study is to review the existing literature on treatment outcomes and to identify prognostic factors in patients undergoing LTx due to HEHE. Materials and Methods: A comprehensive literature review was performed using the PubMed database. Results and Conclusions: LTx is a crucial treatment option for patients with unresectable and multifocal HEHE. Current data indicate that post-transplant survival rates are favorable, with the potential to achieve durable, recurrence-free survival - even in the presence of extrahepatic metastases. Several prognostic factors have been identified that may influence post-transplant outcomes, including tumor burden, presence of extrahepatic disease (EHD), vascular invasion and tumor growth dynamics. In light of the limited efficacy of available systemic therapies, LTx should be considered the preferred treatment option in carefully selected patients with advanced HEHE. Nevertheless, long-term follow-up remains crucial to identify potential recurrence or complications.
2025-12-21 | Modular arthroplasty in patients with primary malignant periacetabular pelvic tumors: case reports
BACKGROUND: Treatment of patients with pelvic bone sarcomas is associated with a high rate of complications and poor outcomes. During reconstructive procedures in patients with malignant periacetabular tumors, modular hip endoprostheses incorporating a cup with a conical stem are increasingly used. CLINICAL CASE DESCRIPTION: A total of 15 cases of periacetabular resections with acetabular reconstruction using a modular LUMiC endoprosthesis were analyzed in patients aged 19–71 years with primary malignant tumors of the pelvic bones. The distribution by sex, age, and diagnosis was as follows: 14 men (93.3%) and 1 woman (6.7%); mean age, 47.1 years; chondrosarcoma in 11 cases (73.3%), osteosarcoma in 3 cases (20.0%), and epithelioid hemangioendothelioma in 1 case (6.7%). A combined surgical approach and an ilioinguinal–femoral approach were used in 10 and 5 patients, respectively. Resections in zones PI–II, PII, PII–III and PI–II–III were performed in 2, 5, 6, and 2 patients, respectively. Complications during a mean follow-up of 37.2 months (6–64 months) developed in 40.0% of cases. Mortality was 6.7% (one patient died in the early postoperative period due to acute myocardial infarction). Deep periprosthetic infection was detected in 3 patients (20.0%) at 3 and 12 weeks and 19 months; the endoprostheses were removed: neoarthrosis was created in 2 cases and interiliac–abdominal amputation was performed in 1 case. Dislocation in the early postoperative period occurred in 1 case (6.7%) due to violation of the orthopedic regimen and was managed by closed reduction. One patient (6.7%) developed persistent sciatic nerve neuropathy in the early postoperative period. No tumor progression was observed during the follow-up period. Aseptic loosening of the endoprostheses was not observed. Functional outcome according to the MSTS score was good or excellent in 10 of 15 cases, with a mean score of 69.7% (range, 16.7%–90%). CONCLUSION: Modular hip endoprostheses incorporating a cup with a conical stem appear to be a promising option for surgery in patients with primary malignant periacetabular pelvic tumors. However, according to our results and international data, the incidence of postoperative infectious complications (up to 25%) and dislocations (up to 19%) remains relatively high, indicating the need for further investigation.
2025-10-01 | S5852 To Transplant or Not to Transplant: A Case of Epithelioid Hemangioendothelioma
Introduction: Gastrointestinal malignancies encompass different cancers within the digestive tract/related organs and therapies are tailored accordingly. In some instances, liver transplant is a viable option for treatment. One malignancy in particular known as a rare vascular sarcoma called epithelioid hemangioendothelioma (EHE). This vascular tumor arises from the lining of blood vessels and occurs in various tissues and organs. In the liver, it can present as multifocal lesions mimicking metastatic disease or sometimes be misdiagnosed as cirrhosis. Usually, the findings are incidental on imaging. Due to the unpredictability of EHE, patients can experience indolent disease progression, while others suffer from aggressive metastasis or complications. We present a patient with EHE who underwent liver transplant. Case Description/Methods: A 72-year-old man with presumed cryptogenic cirrhosis, esophageal varices, and lung nodules presented for further evaluation of liver disease. He was found to have abnormal liver biochemistries on routine labs. Comprehensive liver workup was unremarkable. US showed a lobulated liver with multiple areas of heterogeneity. Subsequent magnetic resonance imaging (MRI) showed multiple hepatic masses concerning for malignancy. Recent bidirectional endoscopy reported small esophageal varices and a hyperplastic colon polyp. PET-CT showed innumerable hypermetabolic hypoattenuating hepatic masses concerning for malignancy and multiple pulmonary nodules measuring up to 7 mm. Recommendation was for liver biopsy to establish tissue diagnosis and discuss management at multidisciplinary tumor board. Biopsy showed EHE. Prior MRI was reviewed again with radiology which demonstrated a confluent process with well-defined MRI characteristics of EHE consistent with biopsy results. Standard treatment was for liver transplant due to risks of proliferation of disease with other treatment options. Additional staging with CT chest showed stable small lung nodules. The transplant committee listed the patient as active for transplant. He underwent an uncomplicated deceased donor transplant 12 months later. One-year post-transplant, a surveillance CT showed new and enlarging pulmonary nodules. He underwent wedge resection. Final pathology showed metastatic EHE. Discussion: Liver transplant remains the primary treatment for localized unresectable EHE. The unpredictable clinical course and variable prognosis underscores the importance of further prospective analysis on EHE and liver transplant.
2025-03-04 | Total talectomy and reconstruction using unrestricted 3D printed prosthesis for pediatric talus hemangioendothelioma.
Epithelioid hemangioendothelioma (EHE) is an ultra-rare vascular sarcoma with an extremely low incidence and prevalence, particularly in children. We report the case of a 9-year-old girl diagnosed with EHE. There are limited reconstruction methods available following total talus resection for vascular endothelioma of the talus, and the use of a 3D-printed talus prosthesis in pediatric cases has not been previously documented. A 9-year-old girl presented to our unit with swelling, pain, and limited mobility of the ankle for one month without an obvious cause. X-ray and CT imaging revealed osteolytic lesions in the talus, which was identified as a low-grade malignant tumor that had nearly completely invaded the talus and was surrounded by immature bone. The American Foot and Ankle Surgery Association (AOFAS) score was 75/100. We performed a total resection of the talus followed by unrestricted talus replacement. Three months post-operation, the child was able to walk unaided. Ankle function was assessed at 6 and 13 months post-surgery, with the AOFAS score improving from 75 to 91, indicating that her functional needs for daily life were largely met. Following complete excision of the lesion, the immature bone surrounding the talus was successfully preserved using an unrestricted 3D-printed prosthesis during ankle reconstruction. Our patient demonstrated satisfactory ankle function during the 6-month follow-up. This method is both safe and stable, yielding promising results, particularly for juvenile patients.
2025-01-27 | Outcomes of Liver Transplant for Hepatic Epithelioid Hemangioendothelioma.
Hepatic epithelioid hemangioendothelioma (HEH) is a rare indication of liver transplant with limited evidence. Adult recipients undergoing first-time liver-only transplant from 2002 to 2021 in the United States were identified using the UNOS/OPTN database. We compared post-transplant outcomes of recipients receiving liver transplant for HEH versus other diagnoses. Survival was visualized using Kaplan-Meier curves and compared using log-rank test and multivariable Cox regression. Propensity score matching for recipient age, sex, and MELD was performed, with baseline characteristics and survival compared between groups. Of 111 558 liver transplant recipients identified, 121 (0.1%) underwent transplant for HEH. Donors to HEH recipients were more often living donors. Recipients with HEH were younger, more likely to be female, and had lower BMI. Recipients with HEH had higher albumin, lower bilirubin, lower INR, and lower serum creatinine, as well as lower MELD scores and rates of ascites and encephalopathy. Similar post-transplant survival was observed for recipients with HEH (16.6 [lower 95% CI 14.9] years) and non-HEH diagnoses (13.8 [95% CI 13.6-13.9] years, log-rank p = 0.28), even after adjusting for baseline donor and recipient characteristics (aHR 1.28 [95% CI 0.94-1.74], p = 0.12). The propensity score matched cohort also had similar post-LT survival. This national study represents the largest known report on liver transplant for HEH. The survival of recipients with HEH was similar to other etiologies, supporting the use of liver transplantation (LT) in advanced HEH.
small molecules
2026-08-07 | Epithelioid Hemangioendothelioma: Challenges in Diagnosis and Management
Epithelioid hemangioendothelioma (EHE) is an ultra-rare endothelial neoplasm with intermediate malignant potential and markedly variable clinical behavior.Historically regarded as within the spectrum of vascular tumors between epithelioid hemangioma and epithelioid angiosarcoma, EHE is now recognized as a distinct, molecularly defined entity, most commonly driven by WWTR1-CAMTA1 or YAP1-TFE3 gene fusions.The liver, lungs, and bones are the most frequently involved sites, whereas involvement of the heart, spleen, breast, and the head and neck region is uncommon.Given the frequent hepatic involvement and the clinical relevance of rare primary gastrointestinal presentations, this review synthesizes current evidence on the epidemiology, molecular pathogenesis, diagnosis, prognostic assessment, and management of EHE, with particular attention to hepatic and gastrointestinal manifestations, liver-directed strategies, and emerging therapeutic approaches.
2026-06-19 | Disseminated hepatic epithelioid hemangioendothelioma with multiorgan metastases achieving long-term stability with Pazopanib: a case report.
Epithelioid Hemangioendothelioma (EHE) is a rare malignant vascular neoplasm with an unpredictable clinical behavior and often delayed diagnosis. The malignancy arises from many anatomical sites, with the liver being the most common primary site. This report portrays a young patient who presented atypically with a multifocal hepatic epithelioid hemangioendothelioma (HEHE) and highlights the challenges faced during the diagnosis and management of such rare malignancies. A 28-year-old male patient from Palestine presented with progressive headache associated with constitutional symptoms. Diagnostic imaging revealed disseminated disease throughout the body. CT-guided liver biopsy confirmed neoplastic cells arranged in small nests and individually, some of which showed intracytoplasmic vacuoles within a hyalinized stroma. Immunohistochemistry was positive for CD31, CD34 and FLI-1, supporting the endothelial origin. Metastatic HEHE was established; a biological treatment plan with Pazopanib (Votrient) was initiated, and the patient was followed for 4 years. During the follow-up period, serial imaging revealed no significant regression or progression of the lesions, indicating stable disease with the treatment used. The case emphasizes the clinical intricacy of HEHE, given its rarity, the lack of standardized treatment guidelines, and the tumor's unpredictable course. Specifically, this case illustrates these challenges within the Palestinian healthcare system.
2026-06-08 | Preoperative embolization and surgical resection of a hypervascular pediatric hemangioendothelioma with intra -extracranial extension: a case report
Abstract Background Hemangioendothelioma is a rare vascular tumor with biological behavior intermediate between hemangioma and angiosarcoma. It occurs more frequently in young adults than in children and most commonly involves the liver, lungs, lymph nodes, and bones. Combined intra- and extracranial involvement is exceptionally rare. The rarity of such cases necessitates careful analysis of the available literature to guide diagnostic evaluation, treatment strategies, and prognostic assessment. Case description We present a clinical case of a 10-year-old girl with a giant hypervascular epithelioid hemangioendothelioma of the cranial vault. The tumor was first diagnosed in 2023 as an intracranial mass in the frontotemporal region associated with bone destruction. Subsequently, the lesion demonstrated progressive aggressive growth, reaching giant dimensions with extension into the fronto-orbital, parietal, and temporal regions. Magnetic resonance imaging (MRI) and computed tomography (CT) revealed a hypervascular tumor measuring 13.5 × 7.0 × 12.4 cm with combined intra- and extracranial components. Digital subtraction angiography (DSA) confirmed tumor vascularization from branches of the external carotid artery. The feeding vessels were embolized using a liquid embolic agent. On the following day, radical surgical resection of the tumor was performed. Histopathological examination confirmed the diagnosis of epithelioid hemangioendothelioma. The postoperative course was uneventful, with gradual regression of clinical symptoms and no neurological deficit. Conclusion This case highlights the effectiveness of preoperative embolization as an adjunct to surgical resection of hypervascular cranial tumors in pediatric patients, significantly reducing intraoperative blood loss and related complications. Keywords: epithelioid hemangioendothelioma; preoperative embolization; gross total resection; intra-extracranial extension .
2026-06-01 | Data from A Phase 2 Study of Eribulin in Patients with Metastatic Angiosarcoma and Epithelioid Hemangioendothelioma
<div>AbstractPurpose:<p>Angiosarcoma and epithelioid hemangioendothelioma (EHE) are two rare vascular sarcomas with limited therapeutic options. Prior reports have shown sensitivity to microtubule-targeting agents in these histologies. We report the efficacy and safety of eribulin in these vascular sarcomas in a pooled analysis of two parallel phase 2 studies.</p>Patients and Methods:<p>Patients more than age 18 years with metastatic or recurrent angiosarcoma or EHE were treated with eribulin (1.4 mg/m<sup>2</sup> on days 1 and 8 of a 21-day cycle) until progression or unacceptable toxicity. The primary endpoint was objective response rate (ORR) by RECIST 1.1.</p>Results:<p>Twenty-nine patients were accrued to the study, with 25 (85%) having had prior taxane exposure. We observed an ORR of 17% for angiosarcomas, with 6 of 23 (26%) patients achieving disease stability for greater than 6 months, and an ORR of 33% (2/6) for EHE, with two of six continuing treatment for over 12 months. Five patients experienced a >1.3-fold time to progression ratio (TTP2/TTP1) on eribulin compared with the immediately prior therapy. Eribulin tolerability was consistent with published data.</p>Conclusions:<p>Eribulin showed clinical activity in this largely taxane-pretreated population. Future studies will be needed to confirm activity.</p><p><a href="https://aacrjournals.org/clincancerres/article-abstract/doi/10.1158/1078-0432.CCR-26-0064" target="_blank"><i>See related commentary by Chen, p. 2130</i></a></p></div>
2026-06-01 | Efficacy and Safety of Everolimus in Advanced Unresectable and Progressive Epithelioid Hemangioendothelioma: A Single-Center Case Series.
Epithelioid hemangioendothelioma (EHE) is an ultra-rare vascular sarcoma, with the liver and lungs as the predominant primary sites. To date, no standard systemic therapy has been established for advanced EHE. This study aimed to evaluate the efficacy and safety of everolimus in patients with advanced, unresectable, and progressive EHE. This case series retrospectively included 11 patients with advanced, progressive EHE who received systemic therapy with everolimus at our hospital spanning a 3-year period. The clinical outcomes, including time to treatment failure (TTF), overall survival (OS), objective response rate (ORR), disease control rate (DCR), and adverse events (AEs), were analyzed. The median follow-up time was estimated using the reverse Kaplan-Meier method. At the data cutoff (April 11, 2025), the median follow-up time was 21.9 months. The median TTF was 21.3 months, and median OS was not reached at the time of analysis. All 11 cases achieved stable disease (SD); the ORR was 0% (0/11), and the DCR was 100.0% (11/11). The most common AEs were mucositis accompanied by multiple oral ulcers (54.5%), which was limited to grade 1-2 severity. One patient (9.1%) experienced grade 3 upper gastrointestinal bleeding. Other AEs included interstitial pneumonia (27.3%), rash (18.2%), and thrombocytopenia (18.2%). No grade 4 or 5 AEs were observed. Everolimus showed preliminary activity, primarily disease stabilisation, in this small retrospective case series of patients with advanced, unresectable, and progressive EHE. Further studies with larger cohorts are warranted to validate these findings.
antibodies
2026-06-18 | Clinical benefit of paclitaxel/carboplatin plus bevacizumab with zoledronic acid in pulmonary epithelioid hemangioendothelioma complicated by hypertrophic pulmonary osteoarthropathy and cardiac tamponade: a case report.
Epithelioid hemangioendothelioma (EHE) is a rare vascular neoplasm lacking a standard systemic therapy. Pulmonary EHE (PEH) may be aggressive if accompanied by serosal effusion and has occasionally been reported in association with hypertrophic pulmonary osteoarthropathy (HPOA). Here, we report a case of a 33-year-old woman who had never smoked and presented with chronic cough, arthralgia, and digital clubbing. Imaging revealed a left upper lobe mass with mediastinal invasion, lymphadenopathy, and pericardial effusion. The patient developed cardiac tamponade that required emergent pericardial drainage. Histopathology from the transbronchial biopsy and mediastinal lymph node sampling showed an epithelioid endothelial tumor positive for CD31, D2-40, factor VIII, and ERG with nuclear CAMTA1 expression, confirming EHE. Bone scintigraphy and ankle magnetic resonance imaging revealed symmetric periosteal-predominant abnormalities consistent with HPOA. Zoledronic acid was administered for HPOA, and paclitaxel/carboplatin plus bevacizumab was initiated with palliative intent. Follow-up imaging during treatment showed marked reduction of the pericardial and pleural effusions, with improvement in arthralgia and activities of daily living. Although the benefit was transient, this case suggests that systemic chemotherapy in combination with bevacizumab may have contributed not only to temporary effusion control in advanced PEH but also to relief of PEH-associated HPOA, while concomitant zoledronic acid may also have supported symptom improvement.
2026-02-13 | Pathological complete remission of pulmonary epithelioid hemangioendothelioma: a case report and literature review.
This study aims to report a case of pulmonary epithelioid hemangioendothelioma (PEH) achieving pathological complete remission following neoadjuvant treatment, thereby enhancing clinical understanding of this rare disease and providing valuable treatment insights. The patient's imaging examination revealed a single large tumor on one side of the lung with lymph node metastasis. After treatment with albumin paclitaxel + carboplatin + bevacizumab, the tumor disappeared from the imaging findings, and postoperative pathology confirmed that the patient achieved pathological complete remission. PEH is rare in clinical practice and is a type of malignant tumor without characteristic clinical manifestations, and the diagnosis relies on pathological and immunohistochemical examinations. Single or few lesions can be treated surgically, whereas those that cannot undergo surgery can be treated with chemotherapy and targeted therapy.
2025-11-20 | Sintilimab combined with chemotherapy in advanced pulmonary epithelioid hemangioendothelioma: a case report and translational insights
Background Pulmonary epithelioid hemangioendothelioma (PEH) is an exceedingly rare vascular tumor, presenting a significant challenge due to its limited treatment options. Immunotherapy in combination with chemotherapy emerges as a potential frontier, yet the understanding of its application in PEH remains in its infancy. Methods A male patient initially faced misdiagnosis as having aspergillosis. Through histopathology and immunohistochemistry, a definitive diagnosis of PEH was later established. The treatment journey involved surgical resection, followed by chemotherapy with albumin-bound paclitaxel and carboplatin, and finally immunotherapy with sintilimab. Results A remarkable radiological improvement was observed post-sintilimab administration, leading to disease stabilization. Significantly, this is the first-ever report of the efficacy of sintilimab in PD-L1-high PEH, filling a critical gap in the existing literature. Conclusion This case not only underscores the potential of sintilimab in PD-L1-high PEH but also sets a precedent for further exploration of immune checkpoint inhibitors in this rare disease.
2024-07-01 | Dual immunotherapy alternating with anti-PD-1 antibody plus liposomal doxorubicin show good efficacy in prostate epithelioid hemangioendothelioma: a case report.
Epithelioid hemangioendothelioma is a rare vascular malignancy, and currently, there is no standard treatment regimen for this disease and existing treatment options have limited efficacy. In this case report, we present a patient with lung and lymph node metastases from prostate epithelioid hemangioendothelioma who achieved a significant partial response. This was accomplished through alternating nivolumab therapy with ipilimumab and liposomal doxorubicin, resulting in a progression-free-survival more than 6 months to date. The treatment was well-tolerated throughout. Our report suggests that dual immunotherapy alternating with anti-PD-1antibody plus doxorubicin may be a potential treatment modality for epithelioid hemangioendothelioma. However, larger sample studies are necessary to ascertain the effectiveness of this treatment strategy and it is essential to continue monitoring this patient to sustain progression-free survival and overall survival.
2023-03-17 | Epithelioid hemangioendothelioma of the retroperitoneal giant type treated with Toripalimab: A case report
Epithelioid hemangioendotheliomas (EHEs), low-grade malignant tumors of vascular endothelial cell origin, are characterized by vascular endothelial proliferation. In 2002, the World Health Organization classified EHEs as locally aggressive tumors with the potential to metastasize. Currently, the diagnosis of EHE is based on pathology, histological and immunohistochemical examinations. There are no standard treatment guidelines. We here report a 69-year-old man who presented with left-sided chest and abdominal pain for more than 2 months. Enhanced computed tomography of the thorax and abdomen in another hospital suggested a mass in the left adrenal region that was considered malignant. Positron emission tomography- computed tomography in our hospital suggested a large multi-loculated, hypermetabolic, cystic mass in the left adrenal region that was considered malignant. Accordingly, a puncture biopsy of the mass was performed and the diagnosis of EHE confirmed by pathological examination, including immunohistochemical staining. This patient was treated with the programmed death 1 (PD-1) immune checkpoint inhibitor toripalimab with long-term success. The best response was stable disease (SD) with a progression-free survival (PFS) of more than 13 months. The patient is still alive now. Because the sample size of previous studies was small, further studies are needed to determine the safety and efficacy of toripalimab in the treatment of EHE.
proteins
2026-08-07 | Fourteen-Year Course of Multiple Recurrent and Distantly Metastatic Hepatic Epithelioid Hemangioendothelioma With Serial Ki-67 Evolution: A Case Report
Objective:Rare disease Background:Hepatic epithelioid hemangioendothelioma (HEHE) is a rare vascular tumor of endothelial origin with variable clinical behavior, posing significant diagnostic and therapeutic challenges.Due to its nonspecific presentation and diverse imaging features, it is frequently misdiagnosed.We present a unique case of HEHE with recurrent liver involvement and distant metastases over a 14-year period, emphasizing diagnostic markers, treatment strategies, and the prognostic value of serial biomarker assessment. Case Report:A 48-year-old woman underwent right partial hepatectomy in 2011 after a routine health check-up incidentally revealed a liver lesion.Histological examination revealed characteristic epithelioid and dendritic tumor cells, confirmed by immunohistochemistry (CD31+, CD34+, Ki-67 5%).Postoperative surveillance detected tumor recurrence 7 years later in the left lobe, necessitating laparoscopic left partial hepatectomy.In 2020, further progression to the caudate lobe and regional lymph nodes prompted complex resection, with Ki-67 rising to 15%.Serial Ki-67 assessments across sequential specimens demonstrated a progressive increase in proliferative activity: 5% (2011), 15% (2020), and ultimately 40% in a pleural metastasis biopsy (2024), correlating closely with clinical progression.The patient received repeated surgical resections and adjuvant interferon alpha-2b, with palliative nab-paclitaxel attempted during the terminal stage but proving ineffective.The patient died in August 2025, approximately 14 years after initial diagnosis. Conclusions:This case highlights the importance of the Ki-67 index as a dynamic biomarker for monitoring tumor evolution and guiding treatment decisions in recurrent HEHE.Regular long-term follow-up and a multidisciplinary approach are crucial for managing this unpredictable neoplasm, given its potential for late recurrence and metastasis.
2024-09-23 | Diffuse skin erythematous plaque as a manifestation of epithelioid hemangioendothelioma: A case report.
Epithelioid hemangioma (EHE) is a rarely malignant tumor originating from the vascular endothelium. Morphological manifestations and immunohistochemical staining results are key to diagnosing EHE. Herein, we present a case of cutaneous involment in a recurrence of EHE. A 75-year-old woman presented with a month-long history of persistent erythematous plaque and pain in the left shoulder. Skin biopsy specimen revealed epithelioid tumor cells containing abundant eosinophilic cytoplasm. Immunohistochemical staining confirmed a recurrence of EHE involving the skin. Subsequently, recombinant human endostatin was administered. At the 10-day follow-up, the cutaneous plaque had improved, and the pain had resolved. When presenting as a local painful erythematous plaque, the possibility of skin involvement in a malignant tumor should be considered. Early diagnosis and early systemic therapy have an important impact on the overall survival of patients with EHE.
2022-03-01 | Outcomes of hepatic epithelioid hemangioendothelioma with different managements: a retrospective investigation.
Hepatic epithelioid hemangioendothelioma (HEH) is an extremely rare tumor, and no standard treatment has been established yet. This study aimed to retrospectively investigate the outcomes of different managements for HEH patients. From March 2014 to November 2019, a retrospective investigation was performed among 50 HEH patients to summarize the outcomes of different managements. Their medical records were collected, and the outcome of each management was evaluated based on radiological images. Of the 50 HEH patients examined, 80% were asymptomatic, and 94% had multiple intrahepatic lesions. Extrahepatic metastases were detected in 54% of patients, and 82% of patients were radiologically misdiagnosed. 16 (88.9%) of 18 patients with initial observation had progressive disease (PD). Of 12 patients with curatively intended surgery or radiofrequency ablation (RF), 10 (83.3%) of them had a recurrence. Six treated patients with interferon-α had results of 4 partial responses (PR), 1 complete response (CR), and 1 stable disease (SD). Of 6 patients with thalidomide, 4 patients had PD, and 2 patients had SD. Four patients treated with chemotherapy had 3 PD and 1 SD. Five patients treated with targeted therapy had 2 PR, 2 PD, and 1 SD. During our observation, we found that HEH patients had a high chance of PD. The risk of recurrence after surgery or RF was high. The encouraging result of interferon-α therapy makes it a promising treatment for HEH.
2021-11-01 | Efficacy and Safety of Interferon-Alpha 2b for Patients with Hepatic Epithelioid Hemangioendothelioma: Outcomes of a Case-Series Analysis
Hepatic epithelioid hemangioendothelioma (HEH) is a rare tumor type. No effective medicine or standard treatment for HEH has been established.From March 2014 to April 2021, 62 patients with pathologically diagnosed HEH were observed regularly, and interferon-alpha 2b (IFN-a 2b) was administered to patients with progressive disease or reoccurrence. Adverse events (AEs) were assessed and recorded, and a tumor assessment scan was performed every 3 months.A total of 42 patients with HEH received IFN-a 2b treatment in this study. No severe (grade ≥3) AEs were reported in the group overall. The most common treatment-related AEs in patients receiving IFN-a 2b were fever (50.0%) and fatigue (21.4%). Partial response and complete response were achieved in 20 patients (47.6%) and 2 patients (4.8%), respectively, and the objective response rate was 52.4%. Stable disease was observed in 12 patients (28.6%), and the disease control rate was 81.0%. Progressive disease was observed in 8 patients (19.0%). The 1-, 3-, and 5-year progression-free survival rates were 81.0%, 69.2%, and 62.3%, respectively. Only 1 patient died as a result of disease progression during the study. The 1-, 3-, and 5-year overall survival rates were 100%, 97.2%, and 97.2%, respectively.IFN-a 2b is a safe and effective treatment for patients with HEH. The encouraging results with IFN-a 2b use make it a promising option for patients who have other types of epithelioid hemangioendothelioma; additional clinical trials are needed.
2021-06-15 | Interferon-alpha 2b: An Effective Treatment for Hepatic Epithelioid Hemangioendothelioma
Abstract Background: Hepatic epithelioid hemangioendothelioma (HEH) is a rare tumor and no standard treatment has been established. This study was aimed to prospectively investigate the effect of interferon-alpha 2b (IFN-a 2b) for HEH patients. Methods: Since March 2014, a total of 62 pathologically diagnosed HEH patients were followed up regularly. IFN-a 2b was suggested to HEH patients with progressed disease. Safety was assessed each month and tumor assessment scan was performed every 3 months. The primary end point was objective response rate (ORR) and disease control rate (DCR). Results: A total of 42 HEH patients were finally included in this study. Median patient age was 35.5 years (range 18-65 years old). No severe (grade ≥3) adverse event (AE) of IFN-a 2b was reported in the whole group. The most common treatment-related AEs were fever (50.0%) and fatigue (21.4%). Two patients had grade 2 level hypothyroidism and 1 patient had grade 2 level of leukopenia and thrombocytopenia. Partial response and complete response were achieved in 20 (47.6%) and 2 (4.8%) patients, respectively, and the ORR was 52.4%. Stable disease was observed in 12 (28.6%) patients and the DCR was 81.0%. Progressive disease was observed in 8 (19.0%) patients. The 1, 3 and 5-year progression free rate were 81.0%, 69.2% and 62.3%, respectively. Only 1 patient died due to the progression of disease during the study. The1, 3 and 5-year overall survival rate were 100%, 97.2% and 97.2%, respectively. Conclusion: IFN-a 2b is a safe and effective treatment for HEH patients.
other
2025-07-14 | Contemporary Therapies in the Treatment of Hepatic Epithelioid Hemangioendothelioma
Hepatic epithelioid hemangioendothelioma (HEHE) is an extremely rare malignant vascular neoplasm with heterogeneous clinical behavior and difficult therapeutic management.This bibliographic review aims to review the most current scientific evidence on contemporary therapies used in the treatment of HEHE, highlighting the advances and challenges still present in clinical practice.A structured search was carried out on the Pub-Med database, covering publications from the last five years on the diagnosis, treatment and prognosis of the disease.The results show that although liver resection and liver transplantation remain the main therapeutic strategies, there is growing interest in systemic and locoregional therapies, including antiangiogenic agents, interferon alfa-2B, sirolimus, radiofrequency ablation and transarterial chemoembolization.However, the scarcity of standardized guidelines, the clinical heterogeneity of HEHE and the lack of approved systemic therapies make it difficult to establish uniform conduct and compromise clinical outcomes.This highlights the need to broaden health professionals' knowledge of the disease and to encourage robust research that contributes to the construction of more effective and personalized therapeutic protocols.
2025-02-26 | Nab-Paclitaxel Based Chemotherapy in the Treatment of Advanced Epithelioid Hemangioendothelioma: A Single-Institution Experience.
To evaluate the clinical efficacy of nab-paclitaxel based chemotherapy in the treatment of advanced epithelioid hemangioendothelioma (EHE). Since March 2022, chemotherapy has been recommended for patients with advanced EHE characterized by large tumors (liver tumors > 10 cm or tumors in other organs > 3 cm), rapid tumor progression, severe symptoms, serosal effusion, and treatment failure. Two chemotherapy regimens were administered: nab-paclitaxel plus bevacizumab and nab-paclitaxel plus sirolimus. Clinical data and outcomes were retrospectively analyzed. From March 2022 to August 2024, 21 patients with histologically confirmed EHE who received nab-paclitaxel based chemotherapy were included. At baseline, 18 patients (85.7%) presented with tumor-related symptoms, and serosal effusion was detected in 12 patients (57.1%). Among patients with hepatic EHE, six (28.6%) had tumors > 10 cm, while six (28.6%) with EHE at other sites had tumors > 3 cm. Partial response and stable disease were achieved in 5 (23.8%) and 12 (57.1%) patients, respectively, resulting in a disease control rate of 80.9%. Symptom relief was observed in 15 of 18 patients (83.3%), and decreased serosal effusion was noted in 6 of 12 patients (50.0%). The 1- and 2-year progression-free survival rates were 50.7% and 13.5%, respectively, while the 1- and 2-year overall survival rates were 70.6% and 51.5%, respectively. Nab-paclitaxel based chemotherapy may offer an effective treatment option for patients with advanced EHE exhibiting adverse prognostic factors. However, further clinical trials are required to confirm its efficacy.
2024-07-08 | Epithelioid hemangioendothelioma-its history, clinical features, molecular biology and current therapy.
Epithelioid hemangioendothelioma (EHE) is a remarkably rare tumor arising from endothelial cells that is classified as a vascular tumor in the WHO classification. The tumor is predominantly characterized by the presence of fusion genes, such as WWTR1-CAMTA1 or YAP1-TFE3, with a minority of cases exhibiting other rare fusion genes. EHE exhibits a broad age of onset, typically presenting at ~50 years, but it is not uncommon in pediatric populations. It manifests in a variety of organs, including the liver, lung, soft tissue and bone. Initial multiple-organ involvement is also observed. The tumor's biological behavior and prognosis vary substantially based on the primary site of manifestation. From a therapeutic perspective, initial active surveillance might be considered in selected cases, although surgical intervention remains the mainstay of treatment, especially for localized single-organ involvement. Chemotherapy is administered to patients with progressive unresectable tumors. Recent advances in the biological analysis of EHE fusion genes have elucidated their diverse functions. Additionally, next-generation sequencing has facilitated the identification of other mutations beyond the fusion genes. These continuous efforts to understand the biology of the fusion genes themselves and/or the dysregulated signaling by fusion genes are expected to lead to the development of novel therapeutic strategies for EHE. This article aims to provide a comprehensive review of EHE, encompassing its historical context, clinical manifestations, molecular biology and the current state of treatment.
2020-05-04 | Endothelial cell malignancies in infants, children and adolescents: Treatment results of three Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry.
Endothelial cell malignancies are extremely rare in childhood. New identification of genetic abnormalities (WWTR1:CAMTA1 translocation) helps to recognize potential therapeutic targets. Little is known about treatment and outcome of these patients. Clinical course, treatment, and outcome in patients with endothelial cell malignancies treated within the Cooperative Weichteilsarkom Studiengruppe (CWS) trials CWS-91, -96, -2002P, and the Soft-Tissue Sarcoma Registry (SoTiSaR) were analyzed (1991-2019). Patients had angiosarcoma (AS) (n = 12), malignant epithelioid hemangioendothelioma (EHE) (n = 16), and kaposiform hemangioendothelioma (KHE) (n = 13). The median age was 5.39 years (range, 0.8-17.34); 33 patients had localized disease (LD), and 8 patients had metastatic disease. Therapy consisted of chemotherapy (CHT) (AS n = 8, EHE n = 9, KHE n = 5), interferon or new agent therapy (EHE n = 5, 2 KHE n = 2), microscopically or macroscopically complete resection (AS n = 3, EHE n = 6, KHE n = 3), and radiotherapy (AS n = 6, EHE n = 2, KHE n = 1). Two patients (KHE) had watch-and-wait strategy resulting in stable disease. Complete remission (CR) was achieved in AS (10/12; 83%), EHE (10/16; 63%), and KHE (5/13; 38%). The five-year EFS and OS for patients with AS was 64% (± 29 CI 95%) and 80% (± 25, CI 95%), with EHE 62% (± 24, CI 95%) and 78% (± 23, CI 95%), with KHE 33% (± 34, CI 95%) and 92% (± 15, CI 95%), respectively. Complete resection was a significant prognostic factor for AS, LD for EHE. Endothelial cell malignancies in childhood have a fair outcome with multimodal treatment. New treatment options are needed for metastic disease.
2018-02-01 | Multicentric visceral epithelioid hemangioendothelioma, with extremity dermal deposits, unusual late recurrence on the nasal bridge, and TFE3 gene rearrangement
Epithelioid hemangioendothelioma (EHE) is a malignant neoplasm with vascular differentiation that most frequently occurs within soft tissues, bone, lung, and liver. It is histologically typified by epithelioid or spindle cells present singly or in cords or clusters, many with cytoplasmic vacuoles that can contain intraluminal erythrocytes (in keeping with primitive vascular differentiation), within myxohyaline or sclerotic matrix. Up to 50% present with synchronous lesions as multifocal disease. The WWTR1-CAMTA1 fusion has been demonstrated in EHEs at a variety of sites and is considered to represent its genetic hallmark. We describe a case of EHE in a patient who initially presented with multiple liver and pulmonary deposits, was found to have a soft tissue lesion in the foot, and then presented with further lesions on the nasal bridge and the arm approximately 6 years after initial presentation. Interestingly, the case showed diffuse CAMTA1 expression but negative TFE3 immunohistochemically, but in contrast showed TFE3 gene rearrangement with fluorescence in situ hybridization but no evidence of WWTR1-CAMTA1 translocation. The clinical behavior of EHE is unpredictable, and this case highlights unusual anatomic, immunohistochemical, and molecular cytogenetic findings. Characterization of the genetics of EHE is important because targeted therapies toward products of the specific WWTR1-CAMTA1 gene fusion may have an impact in the near future.
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Drug Discovery Landscape
1 orphan drug designation for Epithelioid hemangioendothelioma.
1 orphan drug designation for Epithelioid hemangioendothelioma.
Drug | Therapy type | Orphan designation | Clinical trial status | Sponsor |
|---|---|---|---|---|
N-methyl-3-(1-methyl-1H-imidazol-4-yl)-4-((4-(trifluoromethyl)benzyl)amino)benzenesulfonamide | small molecules | FDA | Ikena Oncology |
“Terminated” – programs with discontinued clinical trials, or with no updates reported for 5 years after completion or 12 years after the last trial started.
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