Cellular Cutaneous Epithelioid Hemangioma Harboring the Rare GATA6::FOXO1 Gene Fusion

Am J Dermatopathol. 2024 Apr 1;46(4):223-227. doi: 10.1097/DAD.0000000000002647.

Abstract

Epithelioid hemangioma (EH) is a benign vascular tumor displaying diverse histomorphologies. Among these, one EH subtype comprises cellular sheets of atypical epithelioid cells, posing potential challenges in distinguishing it from malignant vascular lesions. In this case report, we present a cutaneous cellular EH that carries the rare GATA6::FOXO1 gene fusion, a recent discovery. Our aim is to provide an updated insight into the evolving knowledge of EHs while delving into the histologic and molecular characteristics of the primary differential diagnoses.

Publication types

  • Case Reports

MeSH terms

  • Angiolymphoid Hyperplasia with Eosinophilia* / pathology
  • Diagnosis, Differential
  • Forkhead Box Protein O1 / genetics
  • GATA6 Transcription Factor / genetics
  • Gene Fusion
  • Hemangioendothelioma, Epithelioid* / genetics
  • Hemangioma* / pathology
  • Humans
  • Vascular Neoplasms*

Substances

  • FOXO1 protein, human
  • Forkhead Box Protein O1
  • GATA6 protein, human
  • GATA6 Transcription Factor