阿克苏地区非小细胞肺癌基因突变分析

Genetic Mutation Analysis for Non-small Cell Lung Cancer in the Aksu area

目的:探讨阿克苏地区非小细胞肺癌患者的基因突变状态及其与临床病理特征的关系。方法:收集153例非小细胞肺癌患者的病理标本,运用二代测序技术检测基因突变状态,分析各基因突变率与临床病理特征间的相关性。结果:(1)153例非小细胞肺癌患者中,EGFR、ALK、ROS1、KRAS、MET、其它基因(PTEN.ERBB.BRAF.PIK3A.TP53)的突变率分别为49.67%、3.9%、1.9%、5.2%、1.3%、9.0%;(2)76例EGFR突变的样本中,E18-G719A、E19-Del、E20-T790、E21-L858R四个外显子的缺失突变占比分别为3.95%、44.74%、9.21%、42.1%;(3)EGFR的突变率与女性、无吸烟者、腺癌、标本类型相关(P<0.01),与年龄、肿瘤分期无关(P>0.05);(4)ALK、ROS1、KRAS、MET基因突变状态与年龄、吸烟史、组织学类型和标本类型等无关(P>0.05),其它基因(PTEN.ERBB.BRAF.PIK3A.TP53)在男性、吸烟者、非肺腺癌及肺癌Ⅳ期的突变率反而更高(P<0.01)。结论:阿克苏地区EGFR突变率相对较高,联合ALK、ROS1、KRAS、MET的基因突变,为患者的精准治疗提供可靠依据。

Objective:To explore the mutation status of gene,and the relativity about clinicopathological features of patients with non-small cell lung cancer(NSCLC)with Aksu genotypes in Xinjiang.Methods:Pathological specimens of 153 patients with definite diagnosis of NSCLC,The gene mutation status was detected by second-generation sequencing technology,and the correlation between the different gene mutations and clinicopathological features was analyzed.Results:(1)The mutation rates of EGFR,ALK,Ros1,KRAS,MET and others(PTEN.ERBB.BRAF.PIK3A.TP53)were 49.67%,3.9%,1.9%,5.2%,1.3%and 9.0%,respectively.(2)In the 76 patients with EGFR mutations,the deletion mutations of exons E18-G719A,E19 del,E20-T790 and E21-L858R were 3(3.95%),34(44.74%),7(9.21%)and32(42.1%)cases,respectively.(3)The mutation rates of EGFR was associated with female,non-smokers,specimen type and Adenocar-cinoma patients(P<0.01),but there was no significant correlated with age and tumor stage(P>0.05).(4)The mutation rates of ALK,Ros1,Kras,MET were not correlated with age,smoking history,histological type and specimen type(P>0.05),For other rare genes,such as PTEN,ERBB,BRAF,PIK3A,TP53,the mutation rate of male,smokers,non-lung adenocarcinoma and stage IV is higher(P<0.01).Conclusion:The mutation rate of EGFR is relatively high in Aksu genotypes,and combined with gene detection of ALK,Ros1,KRAS and MET,that provide a reliable basis for targeted and precise treatment of patients.