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Open AccessArticle

Frequent Occurrence of NRAS and BRAF Mutations in Human Acral Naevi

Department of Dermatology, Venerology and Allergology, University Hospital Essen, 45147 Essen, Germany
West German Cancer Center, University Hospital Essen, 45147 Essen, Germany
German Cancer Consortium (DKTK), 69120 Heidelberg, Germany
Dermatological Sciences, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne NE2 4HH, UK
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
Department of Dermatology, University of Cologne, 50937 Cologne, Germany
Department of Dermatology, University Hospital Heidelberg, 69120 Heidelberg, Germany
National Center for Tumor Diseases (NCT), German Cancer Research Center (DKFZ), Im Neuenheimer Feld 460, 69120 Heidelberg, Germany
Dermatopathologie bei Mainz, Bahnhofstraße 2 b, 55268 Nieder-Olm, Germany
Authors to whom correspondence should be addressed.
Cancers 2019, 11(4), 546;
Received: 23 March 2019 / Revised: 9 April 2019 / Accepted: 10 April 2019 / Published: 16 April 2019
(This article belongs to the Special Issue Application of Next-Generation Sequencing in Cancers)
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. BRAF mutations 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. View Full-Text
Keywords: acral; naevi; melanoma; genetics; dermatology acral; naevi; melanoma; genetics; dermatology
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Jansen, P.; Cosgarea, I.; Murali, R.; Möller, I.; Sucker, A.; Franklin, C.; Paschen, A.; Zaremba, A.; Brinker, T.J.; Stoffels, I.; Schadendorf, D.; Klode, J.; Hadaschik, E.; Griewank, K.G. Frequent Occurrence of NRAS and BRAF Mutations in Human Acral Naevi. Cancers 2019, 11, 546.

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