表皮生长因子受体-酪氨酸激酶抑制剂治疗后耐药的肺腺癌患者二次组织活检与外周血基因特征一致性分析

目的 对表皮生长因子受体(epidermal growth factor receptor,EGFR)-酪氨酸激酶抑制剂(tyrosine kinase inhibitors,TKIs)治疗后耐药的肺腺癌患者行二次组织活检并采集外周血标本进行基因检测,分析二次组织活检与外周血标本基因特征的一致性.方法 EGFR-TKI...

Consistency of gene characteristics of re-biopsy and peripheral blood in patients with drug-resistant lung adenocarcinoma after treatment with epidermal growth factor receptor-tyrosine kinase inhibitors

Objective To perform gene detection of peripheral blood and re-biopsy samples in patients with drug-resistant lung adenocarcinoma after treatment with epidermal growth factor receptor(EGFR)-tyrosine kinase inhibitors(TKIs),and to analyze the consistency of gene characteristics of re-biopsy and peripheral blood samples.Methods Thirty-seven patients with EGFR-TKIs resistant primary lung adenocarcinoma were collected re-biopsy specimens and matched peripheral blood samples.Gene mutation of 10driver genes of lung cancer were detected by next-generation sequencing(NGS)to compare the consistency of gene characteristics between peripheral blood and tissue samples.Results The detection rate of EGFR T790M mutation in re-biopsy samples was 48.6%(18/37),and all 18patients were combined with the primary EGFRsensitive mutation,with no other gene mutation.The other 19cases with EGFRT790Mnegative had the primary EGFR sensitive mutation,in which 4cases were complicated with TP53 mutation,1case was complicated with Phosphatidylinositol 3-kinase catalytic subunitα(PIK3CA)mutation,1case was complicated with Kirsten rat sarcoma viral oncogene homolog(KRAS)mutation and 1case was complicated with anaplastic lymphoma kinase(ALK)mutation.For 12cases(32.4%)with T790M positive in peripheral blood specimen,7cases were complicated with the primary EGFR sensitive mutation,with no other gene mutation.Among 25cases with T790M negative in peripheral blood samples,18cases had primary EGFR sensitive mutation,9cases were complicated with TP53 mutation,2cases were complicated with PIK3CA mutation,1case was complicated with KRAS mutation and 1 case was complicated with ALK mutation.All 12cases of EGFR T790M mutation detected in peripheral blood samples were also detected in re-biopsy samples,and the consistency was 66.7%(12/18)by taking the results of re-biopsy sample as a reference.The detection rate of EGFR T790M mutation in re-biopsy samples(48.6%)was not significantly different from that in peripheral blood samples(32.4%)(P>0.05).Besides EGFRgene mutation,another 9kinds of gene mutations were detected in 13cases of peripheral blood samples,of which 7cases were detected in re-biopsy samples,with the gene mutation consistency of 53.8%(7/13).The detection rate of TP53 gene mutation in re-biopsy specimens(10.8%)was not significantly different from that in peripheral blood specimens(24.3%)(P>0.05).The detection rate of PIK3CA gene mutation in biopsy specimens(2.7%)was not significantly different from that in peripheral blood specimens(5.4%)(P>0.05).Conclusion The detection rate of T790M mutation of EGFRgene in peripheral blood specimen is relatively low,which can be used as an important supplement for re-biopsy.The gene detection results of peripheral blood samples may reflect the overall gene mutation status of patients to a certain extent.