Journal
DIAGNOSTIC CYTOPATHOLOGY
Volume 49, Issue 12, Pages E447-E452Publisher
WILEY
DOI: 10.1002/dc.24853
Keywords
cytology; epithelioid hemangioendothelioma; liver; YAP1-TFE3 rearrangement
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Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor with intermediate malignancy, often showing indolent behavior. While most cases exhibit the characteristic WWTR1-CAMTA1 gene fusion, a subtype with YAP1-TFE3 fusion and distinctive morphology has been recently described. This report presents a case of YAP1-TFE3 fusion-associated EHE diagnosed on liver mass fine-needle aspiration and core biopsy in an 18-year-old male with synchronous lung and liver involvement, discussing the differential diagnosis of EHE on cytology specimens.
Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor of intermediate malignancy, often with indolent behavior. Though most cases have a characteristic WWTR1-CAMTA1 gene fusion, a subtype of EHE with YAP1-TFE3 fusions and a distinct morphology has recently been described histologically, but no cases of YAP1-TFE3 EHE have been described in the cytology literature. We herein report on a case of YAP1-TFE3 fusion associated EHE diagnosed on fine-needle aspiration and core biopsy of a liver mass in an 18-year-old male patient who presented with synchronous lung and liver involvement. We also discuss the differential diagnosis of EHE on cytology specimens.
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