Epithelioid Hemangioendothelioma and Related Vascular Tumors

Epithelioid hemangioendothelioma (EHE) is a rare vascular sarcoma originating from endothelial cells, exhibiting a spectrum of clinical behaviour from indolent multifocal disease to aggressive metastatic tumours. It most commonly involves the liver, lung, bone and soft tissues of young to middle-aged adults and shows equal sex distribution. Histopathology reveals cords of epithelioid endothelial cells within a myxohyaline stroma and uniform expression of CD31, CD34 and ERG. A hallmark molecular feature is the recurrent WWTR1–CAMTA1 gene fusion, with a minority of cases harbouring YAP1–TFE3 rearrangements; both alter hippo pathway signalling. Radiological assessment utilises CT and MRI to detect characteristic signs such as target-like enhancement, capsular retraction and vessel-terminating “lollipop” appearances in the liver, while pulmonary lesions often present as multiple nodules or pleural thickening. Management ranges from watchful observation for asymptomatic lesions to surgical resection and locoregional therapies. In advanced disease, systemic options include cytotoxic chemotherapy, interferon-α, anti-angiogenic agents and emerging targeted therapies, but response rates remain modest. Related entities such as pseudomyogenic hemangioendothelioma and epithelioid hemangioma share overlapping histological features yet diverge in genetics and clinical course. Ongoing advances in molecular diagnostics and imaging classification are refining prognostic stratification and guiding personalised management, though novel systemic compounds are urgently required for progressive EHE.

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Epithelioid Hemangioendothelioma and Related Vascular Tumors publication trend

The graph below shows the total number of articles in epithelioid hemangioendothelioma and related vascular tumors across all publications each year (not limited to Nature Index journals).

Technical terms

Epithelioid hemangioendothelioma (EHE): A malignant vascular tumour of endothelial origin characterised by epithelioid cell morphology and recurrent WWTR1–CAMTA1 or YAP1–TFE3 fusions.

WWTR1–CAMTA1 fusion: A chromosomal translocation t(1;3)(p36;q25) generating a fusion protein that dysregulates hippo pathway signalling in most EHE cases.

Lollipop sign: A radiological feature in hepatic EHE where a branch of the portal vein ends abruptly at a lesion, resembling a lollipop.

Target-like enhancement: An imaging pattern in which a lesion shows a hypodense or low-attenuation centre surrounded by a ring of contrast uptake.

Capsular retraction: Indentation or pulling in of the liver capsule adjacent to a subcapsular lesion, often seen in coalescent hepatic EHE.

Pseudomyogenic hemangioendothelioma (PHE): An intermediate-grade vascular tumour of young adults, marked by spindle and epithelioid cells, often driven by FOSB gene rearrangements.

References

1. Rare cancer with primary pleural epithelioid hemangioendothelioma diagnosed by thoracoscopic biopsy achieving disease control after 16 months: case report and literature review. Frontiers in Pharmacology (2024).
2. CT appearances and classification of hepatic epithelioid hemangioendothelioma. Insights into Imaging (2023).
3. Epithelioid hemangioendothelioma: an overview and update on a rare vascular tumor. Oncology Reviews (2014).
4. Diagnostic utility of FOSB immunohistochemistry in pseudomyogenic hemangioendothelioma and its histological mimics. Diagnostic Pathology (2016).
5. Systemic therapies in advanced epithelioid haemangioendothelioma: A retrospective international case series from the World Sarcoma Network and a review of literature. Cancer Medicine (2021).