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Endocrine mucin‐producing sweat gland carcinoma: A study of 11 cases with molecular analysis
Author(s) -
Qin Huamin,
Moore Robert F.,
Ho ChengYing,
Eshleman James,
Eberhart Charles G.,
Cuda Jonathan
Publication year - 2018
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/cup.13308
Subject(s) - mucinous carcinoma , cytokeratin , pathology , chromogranin a , carcinoma , synaptophysin , adenocarcinoma , biology , medicine , immunohistochemistry , cancer
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 BRAF V600E 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 BRAF V600E 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.