Cutaneous syncytial myoepithelioma with folliculocentric growth and EWSR1 gene rearrangement: A case report

J Cutan Pathol. 2023 May;50(5):400-404. doi: 10.1111/cup.14419. Epub 2023 Mar 12.

Abstract

Cutaneous syncytial myoepithelioma is a tumor type that was initially reported in 2013 as a syncytial variant of cutaneous myoepithelioma characterized by intradermal nodular proliferation of oval to spindle-shaped tumor cells in solid and syncytial patterns. Fusion of genes Ewing sarcoma breakpoint region 1 / EWS RNA binding protein 1 (EWSR1) and pre-B cell leukemia homeobox 3 (PBX3) is found in approximately 90% of the cases. We report a case of cutaneous syncytial myoepithelioma with diagnostic difficulty due to folliculocentric morphology and atypical immunohistochemical results, including diffuse positivity of α-smooth muscle actin and claudin 4 and negative immunoreactions for epithelial membrane antigen and S100 protein. In the present case, fluorescence in situ hybridization study demonstrated EWSR1 rearrangement. We further provide a discussion of differential diagnoses with a review of relevant literature.

Keywords: Ewing sarcoma breakpoint region 1; cutaneous syncytial myoepithelioma; hair follicle.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Biomarkers, Tumor / metabolism
  • Gene Rearrangement
  • Humans
  • In Situ Hybridization, Fluorescence
  • Myoepithelioma* / pathology
  • RNA-Binding Protein EWS* / genetics
  • RNA-Binding Protein EWS* / metabolism
  • S100 Proteins / genetics
  • Skin Neoplasms* / pathology

Substances

  • Biomarkers, Tumor
  • EWSR1 protein, human
  • RNA-Binding Protein EWS
  • S100 Proteins