ACTB::ZMIZ2-rearranged adnexal carcinoma: a second case

Virchows Arch. 2025 Apr;486(4):871-875. doi: 10.1007/s00428-025-04030-8. Epub 2025 Jan 23.

Abstract

A case of cutaneous adnexal neoplasm with unusual squamoid morphology and harboring an in frame ACTB::ZMIZ2 fusion transcript was recently described. Herein, we report a second case of adnexal carcinoma harboring similar morphology and an identical in frame ACTB::ZMIZ2 fusion transcript. This 2.2-cm mass was removed from the axilla of a 17-year-old woman. Microscopic examination revealed a large nodular and infiltrative tumor invading the dermis composed of sheets and nests frequently centered by large areas of keratinization. Molecular investigation revealed an in frame ACTB::ZMIZ2 fusion transcript. Clustering analysis revealed close proximity of this case with the ACTB::ZMIZ2-fused adnexal tumor previously reported. Herein, we report a second case of adnexal tumor with ACTB::ZMIZ2 fusion arising in a young adult suggesting that ACTB::ZMIZ2 fusion might be a defining genetic event, specific of a rare and previously undescribed adnexal tumor entity.

Keywords: ACTB::ZMIZ2; Adnexal; Porocarcinoma; Trichilemmal.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Axilla / pathology
  • Axilla / surgery
  • Carcinoma* / genetics
  • Carcinoma* / pathology
  • Carcinoma* / surgery
  • Dermis / pathology
  • Dermis / surgery
  • Exome Sequencing
  • Female
  • Humans
  • Neoplasms, Adnexal and Skin Appendage* / genetics
  • Neoplasms, Adnexal and Skin Appendage* / pathology
  • Neoplasms, Adnexal and Skin Appendage* / surgery
  • Oncogene Proteins, Fusion* / genetics
  • Oncogene Proteins, Fusion* / metabolism

Substances

  • Oncogene Proteins, Fusion