Universität zu Köln

Jansen, Philipp ORCID: 0000-0003-3139-2118, Cosgarea, Ioana, Murali, Rajmohan, Moeller, Inga, Sucker, Antje, Franklin, Cindy, Paschen, Annette, Zaremba, Anne, Brinker, Titus J., Stoffels, Ingo, Schadendorf, Dirk, Klode, Joachim, Hadaschik, Eva and Griewank, Klaus G. (2019). Frequent Occurrence of NRAS and BRAF Mutations in Human Acral Naevi. Cancers, 11 (4). BASEL: MDPI. ISSN 2072-6694

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Jansen, Philipp UNSPECIFIED orcid.org/0000-0003-3139-2118 UNSPECIFIED Cosgarea, Ioana UNSPECIFIED UNSPECIFIED UNSPECIFIED Murali, Rajmohan UNSPECIFIED UNSPECIFIED UNSPECIFIED Moeller, Inga UNSPECIFIED UNSPECIFIED UNSPECIFIED Sucker, Antje UNSPECIFIED UNSPECIFIED UNSPECIFIED Franklin, Cindy UNSPECIFIED UNSPECIFIED UNSPECIFIED Paschen, Annette UNSPECIFIED UNSPECIFIED UNSPECIFIED Zaremba, Anne UNSPECIFIED UNSPECIFIED UNSPECIFIED Brinker, Titus J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Stoffels, Ingo UNSPECIFIED UNSPECIFIED UNSPECIFIED Schadendorf, Dirk UNSPECIFIED UNSPECIFIED UNSPECIFIED Klode, Joachim UNSPECIFIED UNSPECIFIED UNSPECIFIED Hadaschik, Eva UNSPECIFIED UNSPECIFIED UNSPECIFIED Griewank, Klaus G. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-151452
DOI:	10.3390/cancers11040546
Journal or Publication Title:	Cancers
Volume:	11
Number:	4
Date:	2019
Publisher:	MDPI
Place of Publication:	BASEL
ISSN:	2072-6694
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MELANOCYTIC NEVI; SPITZ TUMORS; MELANOMA; FEATURES; PREVALENCE; SITE; MIMICS; ALK Multiple languages Oncology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/15145