摘要
目的 探讨中国人群非小细胞肺癌(non-small cell lung cancer,NSCLC)的基因突变情况及其与靶向药物疗效的相关性.方法 应用下一代测序(next-generation sequencing)方法检测102例NSCLC患者EGFR、ALK、KRAS等13个基因的突变情况,并分析其与肺癌临床特征、靶向药物治疗疗效间的相关性.结果 共检测到42例EGFR突变(40.8%),3例ALK融合突变(3.9%),6例KRAS突变(5.8%),3例PIK3CA突变(2.9%),1例MET第14外显子跳跃突变(1%),1例RET融合突变(1%).在不同的样本类型和病理分型中检测到的基因突变情况有较大的差异.20例伴有EGFR突变的患者使用酪氨酸激酶抑制剂进行治疗,17例出现缓解.结论 中国人群NSCLC的基因突变情况与文献报道略有区别,尤其是ALK融合的突变频率.靶向药物疗效与基因突变明确相关.
Objective To provide mutation analysis and targeted therapy for Chinese patients with non-small cell lung cancer(NSCLCs).Methods Mutation of 13 genes including EGFR,ALK,KRAS were detected among 102 patients with NSCLCs by next-generation sequencing,and the correlation between mutations and clinical characteristics and response to targeted therapy were analyzed.Results In total 42 EGFR mutations(40.8%),3 ALK fusions(3.9%),6 KRAS mutations(5.8%),3 PIK3CA mutation and amplification(2.9%),1 MET exon14-skipping(1%)and 1 RET fusion(1%)were detected.The occurrence of mutations have varied with sample types and pathology types.Seventeen out of 20 EGFR tyrosine kinase inhibitor(TKI)-treated patients with EGFR mutation have shown remission.Conclusion The mutation frequency of NSCLCs among Chinese patients slightly differ from the western populations,in particular the frequency of ALK fusion.The mutations are well correlated with clinical response to targeted therapy.
作者
王宇
于丽艳
方楠
孙兵
Wang Yu;Yu Liyan;Fang Nan;Sun Bing(Department of Thoracic Surgery,the Second Affiliated Hospital of Dalian Medical University,Liaoning116023,China;Department of Respiratory Medicine,the First Affiliated Hospital of Dalian Medical University,Liaoning11600.China;Beijing USCI Medical Laboratory Co.,Ltd,100195,China;Department of Thoracic Surgery,the First Affiliated Hospital,Dalian Medical University,Liaoning116011,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第5期424-428,共5页
Chinese Journal of Medical Genetics
