TFE3 rearranged epithelioid hemangioendothelioma of bone: A clinicopathological, immunohistochemical and molecular study of two cases

Ann Diagn Pathol. 2020 Jun:46:151487. doi: 10.1016/j.anndiagpath.2020.151487. Epub 2020 Mar 3.

Abstract

Epithelioid hemangioendothelioma (EHE) is a rare malignant angiocentric vascular neoplasm. Around 90% of classic EHE has a t(1;3)(p36;q25) that results in a WWTR1-CAMTA1 fusion gene, a histologically distinctive subset of EHE has been recently shown to have a t(10;14)(p13;q42)that results in a different fusion gene, YAP1-TFE3. Twenty-one cases of TFE3 Rearranged Epithelioid Hemangioendothelioma have been reported in the literature, and only two cases occurred in bone. In the report, we report additional two cases occurred in the femur and skull and review the related literature.

Keywords: Bone; Epithelioid hemangioendothelioma; TFE3; Vascular tumour.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics*
  • Bone Neoplasms / genetics*
  • Bone Neoplasms / surgery
  • Female
  • Gene Rearrangement
  • Hemangioendothelioma, Epithelioid / genetics*
  • Hemangioendothelioma, Epithelioid / surgery
  • Humans
  • Immunohistochemistry
  • Young Adult

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • TFE3 protein, human