基于微滴式数字PCR的肺癌患者BALF-EGFR基因突变分析在靶向治疗中的应用价值评价  

Evaluation of the application value of BALF-EGFR gene mutation in targeted therapy for lung cancer patients based on droplet digital PCR

作　　者：梁小卉 吴飞 许万星 乔理华 LIANG Xiaohui;WU Fei;XU Wanxing;QIAO Lihua(Department of Clinical Laboratory,Shanghai General Hospital/Shanghai Jiao Tong University School of Medicine,Shanghai 200080,China;College of Health Science and Technology,Shanghai Jiao Tong University,School of Medicine,Shanghai 200025,China;Department of Clinical Laboratory,Shanghai Chest Hospital,Shanghai 200080,China)

机构地区：[1]上海市第一人民医院/上海交通大学医学院附属第一人民医院检验科,上海200080 [2]上海交通大学医学院医学技术学院,上海200025 [3]上海市胸科医院检验科,上海200080

出　　处：《国际检验医学杂志》2024年第23期2918-2921,共4页International Journal of Laboratory Medicine

基　　金：上海市第一人民医院特色研究项目(CTCCR-2021B06)。

摘　　要：目的 探究支气管肺泡灌洗液(BALF)作为表皮生长因子受体(EGFR)基因突变检测标本的临床应用价值。方法 采用微滴式数字聚合酶链反应(ddPCR)检测52例肺癌患者BALF中EGFR基因相关位点(L858R和E746_A750del)突变情况,与相应分子病理结果比较。结果 以分子病理结果为金标准,BALF检测E746_A750del位点灵敏度为58.3%(14/24),特异度为100.0%(14/14),一致性符合率为73.7%(28/38,Kappa=0.508,P<0.01);BALF检测L858R位点灵敏度为64.3%(9/14),特异度为100.0%(14/14),一致性符合率为82.1%(23/28,Kappa=0.643,P<0.01)。与分子病理结果相比,BALF中EGFR基因E746_A750del和L858R突变的检出一致性较高(0.40<Kappa<0.75),BALF中EGFR基因突变检出率与肿瘤分期有关(P<0.05),突变丰度在一定程度上可预测肺癌远端转移。结论 BALF标本在肺癌患者EGFR基因突变检测中有重要的临床应用价值,可作为分子病理检测的补充。Objective To evaluate the clinical application value of bronchoalveolar lavage fluid(BALF) as a specimen for epidermal growth factor receptor(EGFR) gene mutation detection.Methods Droplet digital polymerase chain reaction(ddPCR) was used to detect the mutation situation of relevant sites(L858R and E746_A750del) in EGFR gene in BALF of totally 52 lung cancer patients,and the corresponding molecular pathological results were compared.Results With molecular pathological as a gold standard,the sensitivity of BALF for the detection of E746_A750del was 58.3%(14/24),specificity was 100.0%(14/14) and concordance was 73.7%(28/38,Kappa=0.508,P<0.01),while the sensitivity of BALF for the detection of L858R was 64.3%(9/14),specificity was 100.0%(14/14) and concordance was 82.1%(23/28,Kappa=0.643,P<0.01).Compared with the molecular pathological results,it showed high concordance in determining mutations of E746_A750del and L858R in EGFR gene in BALF(0.40<Kappa<0.75).The detection rate of EGFR gene mutation in BALF was related with tumor stage(P<0.05).The abundance of mutations could predict to some extent the distant metastasis of lung cancer.Conclusion BALF specimens have important clinical application value in detecting EGFR gene mutations in lung cancer patients and could serve as a supplement to molecular pathology detection.

关 键 词：支气管肺泡灌洗液 微滴式数字聚合酶链反应 表皮生长因子受体 基因突变 

分 类 号：R446.8[医药卫生—诊断学]