关键词: 眼部恶性黑色素瘤, cKit, BRAF, 基因突变, 靶向治疗

Abstract: Objective This study was designed to investigate the frequency of cKit/BRAF gene mutations in Chinese patients with ocular melanoma. Methods Forty-three ocular melanomas (30 choroidal melanomas ,13 conjunctival melanomas) were analyzed for mutations in exons 9,11,13,17,18 of cKit and in exon 15 of BRAF in genomic DNA by PCR amplification and sanger sequencing. Results In the choroidal and conjunctival melanoma subtypes, the frequency of cKit mutations was 16.7% (5/30) and (1/13), respectively. A single conjunctival melanoma harbored BRAF mutation and choroidal mealanoma lack BRAF mutation. Conclusion For the first time, this study suggests the frequency of cKit mutations was 16.7% in Chinese patients with choroidal melanomas and the cKit inhibitor might play their roles in Chinese patients with choroidal melanomas.

Key words: ocular melanoma , cKit , BRAF , gene mutation , target-therapy