福建省715例非小细胞肺癌患者驱动基因突变与环境暴露因素研究

Mutation of driver genes and its association with environmental exposure in 715 patients with non-small lung cancer in Fujian province

目的探讨福建省非小细胞肺癌(non-small cell lung cancer,NSCLC)患者驱动基因突变特点及与环境暴露因素的关系。方法利用DNBSEQTM测序技术检测715例NSCLC组织样本中驱动基因突变情况;收集患者临床资料,分析基因突变与暴露因素的关系。结果 715例NSCLC患者中,EGFR、ALK、KRAS、RET、MET、ROS1、BRAF、PIK3CA、ERBB2突变率分别为57.20%、3.36%、2.94%、0.84%、0.70%、0.56%、0.42%、0.14%、0.14%。在未吸烟患者中,EGFR的突变率高于吸烟患者(63.78%vs 57.82%),且突变与肿瘤家族史之间差异有统计学意义(χ^(2)=4.13,P<0.05)。多因素回归分析显示年龄与KRAS突变差异有统计学意义(χ^(2)=4.63,P<0.05),且年龄是其独立预测因素(aOR=0.32,95%CI:0.11~0.90,P=0.03)。结论 EGFR突变率最高,以19、21外显子为主;EGFR突变与肿瘤家族史有关,ALK突变与BMI可能有关,年龄是KRAS突变的独立预测因素。

Objective To identify the mutation of driver genes in non-small cell lung cancer(NSCLC) and to discuss its association with environmental exposure. Methods The mutations of driver genes in lung tissues collected from 715 patients with NSCLC were determined by DNBSEQTM sequencing technology.Meanwhile, clinical data of patients were analyzed for the association between gene mutation and environmental exposure factors. Results The mutation rates of EGFR, ALK, KRAS, RET, MET, ROS1, BRAF, PIK3 CA, ERBB2 were 57.20%, 3.36%, 2.94%, 0.84%, 0.70%, 0.56%, 0.42%, 0.14% and 0.14%, respectively.The mutation rate of EGFR was higher in non-smokers than that in smokers(63.78% vs 57.82%), and there was statistical difference between mutation and family history of cancer(χ^(2)=4.13, P<0.05).Multivariate logistic regression analysis showed that the difference between KRAS mutation and age was significant(χ^(2)=4.63,P<0.05), and age was an independent predictive factor(OR=0.32, 95%CI: 0.11-0.90,P=0.03). Conclusions The mutation rate of EGFR is the highest, predominately in Exon 19 and Exon 21, which is closely related to family history of cancer.BMI may be related with ALK mutation, and age is the independent predictive factor for KRAS mutation.