中国川东北地区非小细胞肺癌少见基因突变结果分析

Analysis of rare gene mutations in non-small cell lung cancer in northeast Sichuan,China

目的:分析中国川东北地区非小细胞肺癌(NSCLC)患者靶基因突变频率及罕见基因突变与临床病理特征及影像学特征间的关系。方法:应用下一代基因测序技术(NGS)对830例NSCLC患者靶基因进行检测,分析131例少见基因突变与临床病理及影像学特征的相关性。结果:608例(73.3%)患者携带基因突变,其中少见突变131例,占比15.8%。KRAS基因突变与男性、吸烟患者具有相关性(P<0.05)。携带KRAS突变患者多表现为无胸膜增厚、胸膜凹陷、血管侵犯及远处转移具有相关性(P<0.05)。ALK突变在不吸烟女性腺癌患者且D-二聚体升高中更为常见,多无空泡征像(P<0.05)。HER2基因突变与癌胚抗原(CEA)及淋巴单核比(LMR)水平具有相关性(P<0.05)。PIK3CA突变倾向于腺癌患者(P<0.05)。BRAF突变好发于肺上叶(P<0.05)。RET突变与胸膜凹陷征具有相关性(P<0.05)。MET突变与LMR相关(P<0.05)。ROS1突变好发于年轻患者,多表现为软组织密度影且无胸膜增厚(P<0.05)。结论:大多数肺癌患者至少存在一个基因突变,个别患者存在共突变。部分基因突变有其独特的临床病理及影像特征,值得临床关注。

Objective:To analyze the relationship between target gene mutation frequency,rare gene mutation and clinicopathological and imaging features in patients with non-small cell lung cancer(NSCLC)in northeast Sichuan of China.Methods:The target genes of 830 patients with NSCLC were detected by next generation gene sequencing(NGS).The correlation between 131 rare gene mutations and clinicopathological and imaging features was analyzed.Results:608 patients(73.3%)carried gene mutations,of which 131 were rare mutations,accounting for 15.8%.KRAS gene mutation was associated with male and smoking patients(P<0.005).Patients with KRAS mutation mostly showed no pleural thickening,pleural depression,vascular invasion and distant metastasis(P<0.05).ALK mutation was more common in non-smoking female adenocarcinoma patients with elevated D-dimer,and most of them had no cavitation signs(P<0.05).HER2 gene mutation was associated with carcinoembryonic antigen(CEA)and lymphocyte to monocyte ratio(LMR)(P<0.05).PIK3CA mutations tended to be present in patients with adenocarcinoma(P<0.05).BRAF mutation was most common in the upper lobe of lung(P<0.05).Pleural depression was associated with RET mutation(P<0.05).MET mutations were associated with LMR(P<0.05).ROS1 mutation was more common in young patients with soft tissue density and without pleural thickening(P<0.05).Conclusion:There is at least one gene mutation in most patients with lung cancer and co-mutation in some patients.Some gene mutations have their unique clinical pathological and imaging features,which are worthy of clinical attention.