中国黑色素瘤患者ＢＲＡＦ基因突变分析

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。

BRAF mutation in Chinese melanoma patients

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.