Primary Cutaneous Adenomyoepithelioma Ex Spiradenoma With Malignant Histologic Features, Epithelial-Myoepithelial Carcinoma Type: A First Case Report With Molecular Studies

Int J Surg Pathol. 2020 Jun;28(4):427-435. doi: 10.1177/1066896919888579. Epub 2019 Dec 9.

Abstract

Adenomyoepithelioma is an extremely rare primary cutaneous neoplasm. Although there is ample evidence on the existence of malignant adenomyoepithelioma in the breast, a malignant counterpart in the skin has not been documented. We report a primary cutaneous adenomyoepithelioma (pcAME) with malignant features arising from a spiradenoma in a 39-year-old female patient. The tumor was solid-cystic in appearance and entirely located in the subcutaneous tissue. Histologically, the tumor displayed foci of adenomatous changes and adenomyoepitheliomatous hyperplasia adjacent to a minute spiradenoma. Gradual increase of architectural complexity, cytologic atypia, mitotic activity, and infiltrative growth were observed in a significant portion of the neoplasm, indicative of transformation to adenomyoepithelioma and subsequently low- to high-grade salivary-type epithelial-myoepithelial carcinoma (EMCA). The intimate dual populations of ductal and myoepithelial cells were highlighted by a panel of immunohistochemical stains in all different components of the tumor. Molecular studies revealed a PIKCA3 mutation, a genetic aberration that has been documented in EMCA, particularly of breast origin. The current case documents for the first time a pcAME with malignant features arising from a spiradenoma and suggests adenomyoepithelioma ex spiradenoma as a possible tumorigenesis pathway of this rare cutaneous tumor.

Keywords: adenomyoepithelioma; cutaneous; epithelial-myoepithelial carcinoma; ex spiradenoma; malignant features; primary.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Acrospiroma / diagnosis*
  • Acrospiroma / pathology
  • Adenomyoepithelioma / diagnosis*
  • Adenomyoepithelioma / pathology
  • Adult
  • Biomarkers, Tumor / analysis*
  • Biomarkers, Tumor / metabolism
  • Carcinoma / diagnosis*
  • Carcinoma / pathology
  • Female
  • Humans
  • Immunohistochemistry
  • Sweat Gland Neoplasms / diagnosis*
  • Sweat Gland Neoplasms / pathology
  • Sweat Glands / pathology*

Substances

  • Biomarkers, Tumor