Epithelioid hemangioendothelioma

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Epithelioid hemangioendothelioma

ORPHA:157791Disease

Also called EHE

What it is

A rare vascular tumor characterized by a wide clinical variability ranging from indolent to locally aggressive behavior with a high metastatic potential. The tumor may arise anywhere in the body, most commonly in the lungs, liver and bones. Histologically, it is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma, and molecularly, it is characterized by WWTR1-CAMTA1 (approximately 90%) or YAP1-TFE3 (approximately 10%) gene fusions. Rarely, other fusion genes are found.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Adolescent, Adult, Childhood, Elderly
Inheritance
Not applicable
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

CAMTA1Part of a fusion gene
TFE3Part of a fusion gene
WWTR1Part of a fusion gene
YAP1Part of a fusion gene

ICD-10 codes

D48.1filed under a broader ICD-10 category — shared with 5 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

MESH D018323MONDO 0015523UMLS C0206732

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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