关键词: KIT, 基因突变, 恶性黑素瘤

Abstract: Background and purpose: KIT mutation plays an important role during the pathogenesis of melanoma. This study was designed to investigate the mutation status of KIT in different subtypes of melanoma. Methods: A total number of 144 cases of melanoma were analyzed for KIT mutation (exon 9, 11, 13 and 17) by DNA sequencing using paraffin-embedded tissues. Results: The total incidence of KIT mutation in melanoma was 9.0% (13/144). KIT mutations in acral melanoma, mucosal melanoma, melanoma on skin with chronic sun-induced damage (CSD) and melanoma on skin without chronic sun-induced damage (non-CSD) was 7.7% (4/52), 20% (7/35), 14.3% (1/7) and 2.8% (1/36), respectively. Among 13 cases with KIT mutation, 1 mutation lay in exon 9, 9 lay in exon 11 and 3 in exon 13. L576P in exon 11 was the most common type of mutation. Conclusion: The most prevalent type of KIT mutation in patients lies in exon 11. KIT mutation could be the potential drug target in melanoma therapy.

Key words: KIT, Gene mutation, Melanoma