Endocrine mucin‐producing sweat gland carcinoma: A study of 11 cases with molecular analysis. (17th July 2018)

• Record Type: Journal Article
• Authors: Qin, Huamin; Moore, Robert F.; Ho, Cheng‐Ying; Eshleman, James; Eberhart, Charles G.; Cuda, Jonathan
• Is Part Of: Journal of cutaneous pathology. Volume 45:Number 9(2018)
• Page Start: 681
• Page End: 687
• Publication Date: 2018-07-17
• Subjects: BRAFV600E mutational status -- chromosome 6 deletion -- endocrine mucin‐producing sweat gland carcinoma -- mucinous carcinoma; Skin -- Diseases -- Periodicals; Dermatology -- Periodicals; 616
• DOI: 10.1111/cup.13308
• Languages: English
• ISSNs: 0303-6987

Abstract

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 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.