A Mutational Survey of Acral Nevi

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Abstract
Importance Acral skin may develop nevi, but their mutational status and association with acral melanoma is unclear. Objective To perform targeted next-generation sequencing on a cohort of acral nevi to determine their mutational spectrum. Design, Setting, and Participants Acral nevi specimens (n = 50) that had been obtained for diagnostic purposes were identified from the pathology archives of a tertiary care academic cancer center and a university dermatology clinic. Next-generation sequencing was performed on DNA extracted from the specimens, and mutations called. A subset of samples was stained immunohistochemically for theBRAFV600E mutation. Results A total of 50 nevi from 49 patients (19 males and 30 females; median [range] age, 48 [13-85] years) were examined. Analysis of the sequencing data revealed a high prevalence ofBRAFmutations (n = 43), with a lower frequency ofNRASmutations (n = 5). Mutations inBRAFandNRASwere mutually exclusive. Conclusions and Relevance In this cohort study, nevi arising on mostly sun-protected acral skin showed a rate ofBRAFmutation similar to that of acquired nevi on sun-exposed skin but far higher than that of acral melanoma. These findings are in contrast to the well-characterized mutational landscape of acral melanoma.

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