Resumen de A Mutational Survey of Acral Nevi

Keiran S.M. Smalley, Jamie K. Teer, Y. Ann Chen, Jheng Yu Wu, John M. Koomen, Wei Shen Chen, Paul Rodriguez Waitkus, Florian A. Karreth, Jane L. Messina

• 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 the BRAF V600E 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 of BRAF mutations (n = 43), with a lower frequency of NRAS mutations (n = 5). Mutations in BRAF and NRAS were mutually exclusive.

  Conclusions and Relevance In this cohort study, nevi arising on mostly sun-protected acral skin showed a rate of BRAF mutation 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.