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Microcystic Adnexal Carcinoma-like Neoplasm in a Patient With POT1 Mutation
Journal article

Microcystic Adnexal Carcinoma-like Neoplasm in a Patient With POT1 Mutation

Margaux P Games, Laurel Schwartz and Jules B Lipoff
Cutis (New York, N.Y.), v 117(4), pp E23-E27
Apr 2026
DOI: https://doi.org/10.12788/cutis.1397
PMID: 42411896

Abstract

Aged Basal Cell Carcinoma - genetics Basal Cell Carcinoma - pathology Carcinoma, Skin Appendage - diagnosis Carcinoma, Skin Appendage - genetics Carcinoma, Skin Appendage - pathology Humans Male Neoplasms, Adnexal and Skin Appendage - diagnosis Neoplasms, Adnexal and Skin Appendage - genetics Neoplasms, Adnexal and Skin Appendage - pathology Shelterin Complex Skin Neoplasms - diagnosis Skin Neoplasms - genetics Skin Neoplasms - pathology Telomere-Binding Proteins - genetics Mutation
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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