FOXO1 gene involvement in a non-rhabdomyosarcomatous neoplasm

Virchows Arch. 2021 Nov;479(5):1031-1036. doi: 10.1007/s00428-021-03026-4. Epub 2021 Jan 28.

Abstract

Myoepithelial neoplasms of soft tissue are rare tumors with clinical, morphological, immunohistochemical, and genetic heterogeneity. The morphological spectrum of these tumors is broad, and the diagnosis often requires immunostaining to confirm myoepithelial differentiation. Rarely, tumors show a morphology that is typical for myoepithelial neoplasms, while the immunophenotype fails to confirm myoepithelial differentiation. For such lesions, the term "myoepithelioma-like" tumor was introduced. Recently, two cases of myoepithelioma-like tumors of the hands and one case of the foot were described with previously never reported OGT-FOXO gene fusions. Here, we report a 50-year-old woman, with a myoepithelial-like tumor localized in the soft tissue of the forearm and carrying a OGT-FOXO1 fusion gene. Our findings extend the spectrum of mesenchymal tumors involving members of the FOXO family of transcription factors and point to the existence of a family of soft tissue tumors that carry the gene fusion of the OGT-FOXO family.

Keywords: FOXO1; Myoepithelioma; OGT; Rhabdomyosarcoma.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers, Tumor / analysis
  • Biomarkers, Tumor / genetics*
  • Female
  • Forearm
  • Forkhead Box Protein O1 / genetics*
  • Gene Fusion*
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Middle Aged
  • Myoepithelioma / chemistry
  • Myoepithelioma / genetics*
  • Myoepithelioma / pathology
  • Myoepithelioma / surgery
  • N-Acetylglucosaminyltransferases / genetics*
  • Soft Tissue Neoplasms / chemistry
  • Soft Tissue Neoplasms / genetics*
  • Soft Tissue Neoplasms / pathology
  • Soft Tissue Neoplasms / surgery
  • Treatment Outcome

Substances

  • Biomarkers, Tumor
  • FOXO1 protein, human
  • Forkhead Box Protein O1
  • N-Acetylglucosaminyltransferases
  • OGT protein, human