A Mutational Survey of Acral Nevi
- Autores: 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
- Localización: JAMA Dermatology, ISSN 2168-6068, Vol. 157, Nº. 7, 2021, págs. 831-835
- Idioma: inglés
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Resumen
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.
