Endocrine mucin-producing sweat gland carcinoma: A study of 11 cases with molecular analysis

Huamin Qin, Robert F. Moore, Cheng Ying Ho, James Eshleman, Charles G Eberhart, Jonathan Cuda

Research output: Contribution to journalArticle

Abstract

Background: Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare, low-grade adnexal neoplasm that most commonly involves the eyelid. Analogous to solid papillary carcinoma of the breast, it probably represents a precursor lesion to mucinous carcinoma. Here, we describe 11 cases of EMPSGC with molecular analysis. Methods: We performed a retrospective search of the Johns Hopkins Medical Institute pathology database and identified 11 cases of EMPSGC. Immunohistochemistry was performed for chromogranin, synaptophysin, neuron specific enolase, estrogen receptor (ER), epithelial membrane antigen (EMA), cytokeratin 7 (CK7), and cytokeratin 20 (CK20). Array comparative genomic hybridization (aCGH) and BRAFV600E pyrosequencing were performed on two and three cases, respectively. Results: We observed a strong female predilection (73% females, 8/11 cases) with an average age of 66 years (range, 56-83 years). EMPSGCs were associated with adjacent benign sweat gland cysts (3/11), atypical intraductal proliferation (1/11), and mucinous carcinoma (1/11). Immunohistochemically, all tumors expressed at least one neuroendocrine marker, ER, EMA, and CK7, and were negative for CK20. aCGH demonstrated a 6p11.2 to 6q16.1 deletion (1/2 cases). All cases were negative for BRAFV600E mutation (3/3 cases). Conclusion: This series provides further histopathologic support that EMPSGC represents a multistage progression to mucinous carcinoma. Additional studies are needed to understand its molecular mechanisms.

Original languageEnglish (US)
Pages (from-to)681-687
Number of pages7
JournalJournal of Cutaneous Pathology
Volume45
Issue number9
DOIs
StatePublished - Sep 1 2018

Keywords

  • BRAF mutational status
  • chromosome 6 deletion
  • endocrine mucin-producing sweat gland carcinoma
  • mucinous carcinoma

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology
  • Dermatology

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