170例晚期肺腺癌患者EGFR突变检测状况相关分析

Analysis of gene detection status of EGFR mutation in 170 patients with advanced lung adenocarcinoma

目的探讨晚期肺腺癌患者表皮生长因子受体(EGFR)突变检测中不同检测方法及检测样本的实际使用状况并进行分析。方法收集南京市胸科医院呼吸科170例接受EGFR驱动基因检测的晚期肺腺癌患者病例资料,对初次检测结果及连续检测实施状况作出分析。结果170例患者初次检测EGFR突变率为49.4%(84/170),女性患者EGFR敏感突变检出率高于男性[61.4%(43/70)∶41.0%(41/100);χ^2=6.875,P=0.009];≥65岁患者EGFR敏感突变检出率低于<65岁患者[41.6%(47/113)∶64.9%(37/57);χ^2=8.242,P=0.004];吸烟者EGFR敏感突变检出率低于非吸烟者[34.3%(24/70)∶60.0%(60/100);χ^2=10.892,P=0.001]。疾病进展后60例患者接受再次检测,T790M检出率为48.3%(29/60)。170例患者初检时EGFR敏感突变检出率:肿瘤组织(活检+胸腔积液细胞蜡块)为50.8%(64/126),ctDNA(胸腔积液+外周血)为45.5%(20/44),差异无统计学意义(χ^2=0.372,P=0.542);PCR法敏感突变检出率为51.0%(77/151),二代测序(NGS)法为36.8%(7/19),差异无统计学意义(χ^2=1.352,P=0.245)。60例患者耐药后T790M检出率:PCR法为51.9%(14/27),NGS为45.5%(15/33),差异无统计学意义(χ^2=0.243,P=0.622)。初检时使用肿瘤组织进行检测占74.1%(126/170),ctDNA占25.9%(44/170);第2次检测时使用肿瘤组织接受检测占11.7%(7/60),ctDNA占88.3%(53/60);第3次检测时使用肿瘤组织标本检测占23.1%(3/13),ctDNA占76.9%(10/13)。3次检测使用检测方法占比:初检PCR占88.8%(151/170),NGS占11.2%(19/170);疾病进展后再次检测PCR占45.0%(27/60),NGS占55.0%(33/60),第3次检测NGS占100%(13/13)。结论对于晚期肺腺癌患者而言,充分利用不同肿瘤标本及ctDNA检测有助于提高EGFR突变检测受检率,合理使用PCR技术及NGS方法可给患者带来最大获益。

ObjectiveTo explore and analyze the actual use of different detection methods and samples in detection of epidermal growth factor receptor(EGFR)mutation in patients with advanced lung adenocarcinoma.MethodsThe clinical data of 170 patients with advanced lung adenocarcinoma receiving EGFR gene detection in Department of Respiratory Medicine of Nanjing Chest Hospital were collected and an analysis of initial result and continuous detection conditions was made.ResultsThe EGFR sensitive mutation rate of the first detection in 170 patients was 49.4%(84/170).The detection rate of EGFR sensitive mutation in female patients was higher than that in male patients[61.4%(43/70)vs.41.0%(41/100);χ^2=6.875,P=0.009].The detection rate of EGFR sensitive mutation in patients aged 65 or older was lower than that in patients younger than 65 years old[41.6%(47/113)vs.64.9%(37/57);χ^2=8.242,P=0.004].The detection rate of EGFR sensitive mutation in smokers was lower than that in non-smokers[34.3%(24/70)vs.60.0%(60/100);χ^2=10.892,P=0.001].A total of 60 patients were retested after disease progression,and the detection rate of T790M was 48.3%(29/60).The detection rate of EGFR sensitive mutation in the initial examination in 170 patients:tumor tissue(biopsy and pleural effusion cell wax block)for 50.8%(64/126),ctDNA(pleural effusion and peripheral blood)for 45.5%(20/44),with no significant difference(χ^2=0.372,P=0.542);PCR method for 51.0%(77/151),next-generatio sequencing(NGS)method for 36.8%(7/19),with no significant difference(χ^2=1.352,P=0.245).The detection rate of T790M in 60 patients receiving drug resistance:PCR method for 51.9%(14/27),NGS method for 45.5%(15/33),with no significant difference(χ^2=0.243,P=0.622).The use of tumor tissue was 74.1%(126/170)in the initial examination,and ctDNA accounted for 25.9%(44/170).The use of tumor tissue was 11.7%(7/60)in the second examination,and ctDNA accounted for 88.3%(53/60).The use of tumor tissue was 23.1%(3/13)in the third examination,and ctDNA accounted for 76.9%(10/13).The proportions of detection methods used for the 3 tests were as follows,the first test:PCR accounted for 88.8%(151/170),and NGS accounted for 11.2%(19/170);the second test:PCR accounted for 45.0%(27/60),and NGS accounted for 55.0%(33/60);the third test:NGS accounted for 100%(13/13).ConclusionFor patients with advanced lung adenocarcinoma,making full use of different tumor specimens and ctDNA helps improving the detection rate of EGFR mutation,and reasonable use of PCR technology and NGS method can bring maximum benefits to patients.