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. Preprints2019, 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
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. Preprints2019, 2019080077
APA Style
Doma, V., Barbai, T., Beleaua, M., Kovalszky, I., Raso, E., & Timar, J. (2019). KIT Mutation Incidence and Pattern of Skin Melanoma in a Central European Country. Preprints. https://doi.org/
Chicago/Turabian Style
Doma, V., Erzsebet Raso and Jozsef Timar. 2019 "KIT Mutation Incidence and Pattern of Skin Melanoma in a Central European Country" Preprints. https://doi.org/
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.
Keywords
skin melanoma, KIT mutation, Sanger sequencing
Subject
Medicine and Pharmacology, Dermatology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
