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Lookup NU author(s): Dr Ioana Cosgarea
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2019 by the authors. Licensee MDPI, Basel, Switzerland. Acral naevi are benign melanocytic tumors occurring at acral sites. Occasionally they can progress to become malignant tumors (melanomas). The genetics of acral naevi have not been assessed in larger studies. In our study, a large cohort of 130 acral naevi was screened for gene mutations known to be important in other naevi and melanoma subtypes by targeted next-generation sequencing. Mutation status was correlated with clinicopathological parameters. Frequent mutations in genes activating the MAP kinase pathway were identified, including n = 87 (67%) BRAF, n = 24 (18%) NRAS, and one (1%) MAP2K1 mutations. BRAFmutations were almost exclusively V600E (n = 86, 99%) and primarily found in junctional and compound naevi. NRAS mutations were either Q61K or Q61R and frequently identified in dermal naevi. Recurrent non-V600E BRAF, KIT, NF1, and TERT promoter mutations, present in acral melanoma, were not identified. Our study identifies BRAF and NRAS mutations as the primary pathogenic event in acral naevi, however, distributed differently to those in non-acral naevi. The mutational profile of acral naevi is distinct from acral melanoma, which may be of diagnostic value in distinguishing these entities.
Author(s): Jansen P, Cosgarea I, Murali R, Moller I, Sucker A, Franklin C, Paschen A, Zaremba A, Brinker TJ, Stoffels I, Schadendorf D, Klode J, Hadaschik E, Griewank KG
Publication type: Article
Publication status: Published
Online publication date: 16/04/2019
Acceptance date: 10/04/2019
Date deposited: 22/05/2019
ISSN (electronic): 2072-6694
Publisher: MDPI AG
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