中国黑色素瘤患者BRAF基因突变分析

摘要

目的:探讨BRAF基因在中国人黏膜、肢端和非肢端皮肤黑色素瘤中的突变率和类型.方法:用PCR扩增和直接测序方法检测90例中国恶性黑色素瘤(MM)患者肿瘤组织中BRAF外显子11和15的突变情况.结果:黏膜、肢端和非肢端皮肤黑色素瘤患者肿瘤组织中BRAF基因的突变率分别为23.3%(7/30)、16.7%(5/30)和43.3%(13/30);25例BRAF基因突变中,1例为串联突变,其它均为点突变;仅有1例BRAF基因突变位于第11 外显子,其余24例均位于BRAF第15外显子.V600E突变占所有BRAF基因第15外显子突变的83.3%(20/24).结论:BRAF基因在中国人非肢端皮肤黑色素瘤中突变率较高,且以该基因第15外显子V600E点突变为主,有可能成为靶向药物作用的靶点.%Objective:This study is designed to investigate the mutation status of BRAF in Chinese mucosa, acral and non-acral skin malignant melanoma (MM) patients. Methods:Exon 11 and 15 of BRAF were amplified from tissue samples of 90 cases of Chinese MM patients by PCR; direct sequencing was applied to detect mutations in both exons. Results:BRAF mutation rate in mucosa, acral and non-acral skin MM tissues was 23.3%(7/30),16.7%(5/30)and 43.3%(13/30). One case in 25 was tandem mutation and 24 were point mutations. One mutation lied in exon 11 and 24 lied in exon 15, and V600E comprises 83.3% of all mutations in exon 15. Conclusion:BRAF mutation is frequent in non-acral MM of Chinese patients, and most in exon 15 with V600E point mutation, which renders it a potential drug target to be studied.