Working Paper Article Version 1 This version is not peer-reviewed

KIT Mutation Incidence and Pattern of Skin Melanoma in a Central European Country

Version 1 : Received: 5 August 2019 / Approved: 6 August 2019 / Online: 6 August 2019 (12:33:31 CEST)

How to cite: Doma, V.; Barbai, T.; Beleaua, M.; Kovalszky, I.; Raso, E.; Timar, J. KIT Mutation Incidence and Pattern of Skin Melanoma in a Central European Country. Preprints 2019, 2019080077 Doma, V.; Barbai, T.; Beleaua, M.; Kovalszky, I.; Raso, E.; Timar, J. KIT Mutation Incidence and Pattern of Skin Melanoma in a Central European Country. Preprints 2019, 2019080077

Abstract

Data on the KIT mutation rate in skin melanoma in the central European region is missing. Accordingly, in a cohort of 79 double wild type (BRAF/NRAS) skin melanoma KIT mutation was assessed by Sanger sequencing of exons 9,11,13,17 and 18. In this skin melanoma cohort KIT mutation frequency was found to be 34/79 (43%) with a significantly higher rate in acrolentiginous melanoma (ALM) as compared to UV-induced common variants (20/34, 58.8% versus 14/45, 31.1%, p=0.014). Exon 11 was the most frequent mutation site (44.7%) followed by exon 9 (21.1%) equally characterizing UV-induced common histotypes and ALM tumors. KIT mutation hotspots were identified in exon 9 (c491/492), in exon 11 (c559,c572, c570), in exon 13 (c642), in exon 17 (c822) and in exon 18 (c853). The relatively high KIT mutation rate in skin melanoma in this central-European cohort justifies regular testing of this molecular target.

Subject Areas

skin melanoma, KIT mutation, Sanger sequencing

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