Cytologic features of hepatic YAP1-TFE3 rearranged epithelioid hemangioendothelioma

Diagn Cytopathol. 2021 Dec;49(12):E447-E452. doi: 10.1002/dc.24853. Epub 2021 Aug 19.

Abstract

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.

Keywords: YAP1-TFE3 rearrangement; cytology; epithelioid hemangioendothelioma; liver.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / metabolism*
  • Biopsy, Fine-Needle
  • Hemangioendothelioma, Epithelioid / diagnostic imaging
  • Hemangioendothelioma, Epithelioid / pathology*
  • Humans
  • Liver / diagnostic imaging
  • Liver / pathology*
  • Magnetic Resonance Imaging
  • Male
  • Oncogene Proteins, Fusion / genetics
  • YAP-Signaling Proteins / metabolism*

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Oncogene Proteins, Fusion
  • TFE3 protein, human
  • YAP-Signaling Proteins
  • YAP1 protein, human