２６２例中国人黑色素瘤Ｃ-ＫＩＴ基因扩增分析

目的　分析中国人黏膜、肢端和非肢端皮肤黑色素瘤Ｃ-ＫＩＴ基因扩增情况。方法　采用Real time Quantitative PCR SYBR green染料法检测２６２例中国人恶性黑色素瘤（ＭＭ）Ｃ-ＫＩＴ基因拷贝数变异；存在Ｃ-ＫＩＴ基因扩增的病例，采用ＰＣＲ扩增和基因测序的方法检测其第９、１１、１３、１７和１８外显子突变情况，免疫组化方法检测ＣＤ１１７表达情况。结果　２１例患者肿瘤组织中Ｃ-ＫＩＴ基因存在明显扩增，黏膜、肢端和非肢端皮肤黑色素瘤Ｃ-ＫＩＴ基因扩增比例分别为１０.２０％（１０／９８）、８.２４％（７／８５）和５.０６％（４／７９）；其中２例Ｃ-ＫＩＴ基因扩增同时伴突变；Ｃ-ＫＩＴ基因扩增与ＣＤ１１７表达无明显相关性。结论 在中国两种最常见的黑色素瘤亚型肢端和黏膜黑色素瘤患者中，部分患者黑色素瘤组织存在Ｃ-ＫＩＴ基因扩增，提示针对这种扩增的特异靶向药物有可能成为该类患者个体化治疗的选择。

C-KIT gene amplification in 262 Chinese melanoma patients

Objective This study was designed to investigate the copy number variants of C-KIT gene in Chinese mucosal,acral and non-acral skin malignant melanoma(MM) patients.Methods Two hundred and sixty-two melanomas were screened for copy number variants of C-KIT by real-time quantitative PCR;PCR and direct sequencing were applied to detect mutations in exon 9,11,13,17 and 18 of C-KIT;immunohistochemistry was done to assess KIT(CD117) expression.Results Increased C-KIT copy number were detected in 8.24%(7 of 85) of...