肺腺癌患者不同标本二代测序基因突变检测结果及其临床特征分析

Second-generation sequencing gene mutation detection results and clinical characteristics of different specimens from patients with lung adenocarcinoma

目的探讨不同标本来源的肺腺癌(Adenocarcinoma of Lung)初诊患者中EGFR、KRAS、ERBB2以及ALK四种驱动基因的突变检出情况及其临床特征因素。方法回顾性分析2018年5月至2020年12月583例肺腺癌初诊患者的临床资料及肿瘤标本二代测序结果,对比不同标本来源下的基因突变检测结果及与其年龄、性别、吸烟史和临床分期之间的关联。结果583例肺腺癌患者中,EGFR基因突变型为257例(44.08%),年龄≤65岁、不吸烟的女性患者突变检出率相对较高(P<0.05),经组织取材检出最佳,其中具体组织取材方法之间并无统计学差异(P=0.492,>0.05),但经内镜下、手术获取标本明显优于血液标本(P=0.033、P=0.020,<0.05);KRAS基因突变型为38例(6.52%),男性吸烟患者基因突变检出率相对较高(P<0.05),ALK基因突变型为22例(3.77%),女性、不吸烟患者突变检出率相对较高(P<0.05),二者的不同标本来源之间无统计学差异(P=0.178、P=0.423,>0.05),但仍以组织取材为先;ERBB2基因突变型为24例(4.12%),不同性别、年龄、吸烟史及肿瘤分期的基因突变检出率对比,差异无统计学意义(P>0.05),而标本来源于组织、血液、胸水间差异有统计学意义(P=0.024,<0.05);其中经皮肺穿刺明显优于血液检出(P=0.033,<0.05)。结论二代测序下不同肿瘤标本的来源途径及初诊肺腺癌患者的部分临床特征对四种基因突变的检出率存在一定临床意义,临床上应选择相对优势的检测标本送检。

Objective To investigate the mutation detection and clinical characteristics of EGFR,KRAS,ERBB2 and ALK in newly diagnosed patients with lung adenocarcinoma from different specimen sources.Methods The clinical data and second-generation sequencing results of 583 newly diagnosed patients with lung adenocarcinoma from May 2018 to December 2020 were retrospectively analyzed,and the gene mutation detection results from different sample sources and their associations with age,gender,smoking history and clinical stage were compared.Results Among 583 patients with lung adenocarcinoma,257(44.08%)had EGFR gene mutation.The mutation detection rate of female patients aged≤65 years and non-smoking was relatively higher(P<0.05),and the best was detected by tissue sampling.There was no significant difference between specific tissue sampling methods(P=0.492>0.05),but the samples obtained by endoscopy and surgery were significantly better than blood samples(P=0.033,P=0.020<0.05).There were 38 KRAS gene mutations(6.52%),and the detection rate of gene mutations in male smoking patients was relatively higher(P<0.05).The mutation rate of ALK gene was 22 cases(3.77%),and the mutation detection rate of female and non-smoking patients was relatively high(P<0.05).There was no significant difference between different specimen sources(P=0.178,P=0.423>0.05),but tissue sampling was still the first.There were 24 cases(4.12%)of ERBB2 gene mutation.There was no significant difference in the detection rate of gene mutation among different gender,age,smoking history and tumor stage(P>0.05),but there was significant differences among samples from tissue,blood and pleural effusion(P=0.024<0.05).Percutaneous lung puncture was significantly better than blood detection(P=0.033<0.05).Conclusion The sources of different tumor specimens and some clinical characteristics of newly diagnosed lung adenocarcinoma patients under second-generation sequencing have certain clinical significance for the detection rate of four gene mutations.Clinically,the test specimens with comparative advantages should be selected for examination.