Mutation spectrum in and in Chinese uveal melanoma.

Uveal melanoma is the most common intraocular cancer in the adult eye. R183 and Q209 were found to be mutational hotspots in exon 4 and exon 5 of and in Caucasians. However, only a few studies have reported somatic mutations in or in uveal melanoma in Chinese. We extracted somatic DNA from paraffin-embedded biopsies of 63 Chinese uveal melanoma samples and sequenced the entire coding regions of exons 4 and 5 in and . The results showed that 33% of Chinese uveal melanoma samples carried Q209 mutations while none had R183 mutation in or . In addition, seven novel missense somatic mutations in (Y192C, F194L, P170S, D236N, L232F, V230A, and M227I) and four novel missense somatic mutations in (R166C, I200T, S225F, and V206M) were found in our study. The high mutation frequency of Q209 and the novel missense mutations detected in this study suggest that and are common targets for somatic mutations in Chinese uveal melanoma.