Microcystic Adnexal Carcinoma-like Neoplasm in a Patient With POT1 Mutation
Margaux P Games1, Laurel Schwartz1, Jules B Lipoff1
1Margaux P. Games is from Drexel University College of Medicine, Philadelphia, Pennsylvania. Dr. Schwartz is from Advanced Dermatology and Cosmetic Surgery, Fort Washington, Pennsylvania. Dr. Lipoff is from the Department of Dermatology, Lewis Katz School of Medicine, Temple University, Philadelphia.
Abstract:
A 72-year-old man with a history of multiple cancers, including melanoma, squamous cell carcinoma (SCC), and basal cell carcinoma (BCC), presented to the dermatology clinic for a regularly scheduled full-body skin examination and subsequently was diagnosed with microcystic adnexal carcinoma (MAC). He previously had been referred to a medical geneticist and was found to have a POT1 (protection of telomeres 1) mutation. While a connection between melanoma and POT1 mutations has been established, further research may clarify the relationship between POT1 mutations and specific skin cancer susceptibility.
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