非小细胞肺癌患者经支气管内超声引导支气管针穿刺获取的转移淋巴结标本与原发病灶标本中表皮生长因子受体基因突变比较

摘要

目的 比较晚期非鳞状非小细胞肺癌(NSCLC)患者经支气管内超声引导支气管针穿刺(EBUS-TBNA)获取的转移淋巴结(LN)标本与原发病灶(PT)标本的表皮生长因子受体(EGFR)突变状态,评价EBUS-TBNA获取标本用于检测EGFR基因突变的价值.方法 对2014年1月至2016年1月郑州大学人民医院收治的72例初治、非鳞状NSCLC患者(Ⅲ期和Ⅳ期)的PT标本与EBUS-TBNA获取的转移LN标本进行EGFR基因突变检测.通过扩增阻滞突变系统(ARMS)法检测EGFR基因突变情况,比较EGFR基因突变的一致率,并评估不同EGFR基因突变患者靶向治疗的疾病控制率.结果 72例标本中,34例(47.2％)显示至少1个EGFR基因突变,其中PT标本33例,转移LN标本30例;主要是外显子19缺失和外显子21 L858R突变.PT和转移LN标本EGFR基因突变的一致率为88.9％ (64/72).1例患者的PT和转移LN标本中均有外显子21 L858R突变,而仅在转移LN标本中检测到T790M突变.EGFR基因突变的病例中有28例患者接受EGFR酪氨酸激酶抑制剂(TKI)治疗,其疾病控制率为71.4％ (20/28,部分缓解16例,疾病稳定4例).PT和转移LN标本中EGFR基因突变一致患者和突变不一致患者的TKI治疗疾病控制率比较差异无统计学意义(x2=0.07,P＞0.05).结论 通过EBUS-TBNA取得的转移LN标本的EGFR基因突变结果与同一患者的PT标本具有较高的一致性,晚期非鳞状NSCLC患者通过EBUS-TBNA获得的转移LN标本可以用于EG-FR突变的检测.%Objective To compare epidermal growth factor receptor genetic mutation in primary tumor and metastatic lymph nodes acquired via endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in non-squamous,non-small cell lung cancer (NSCLC),in order to evaluated the efficacy of using EBUS-TBNA to obtain the samples in detecting epidermal growth factor receptor(EGFR) genetic mutation.Methods Seventy-two treatment-naive,advanced,non-squamous NSCLC patients (stage Ⅲ and Ⅳ) with matched lymph node (LN) specimens obtained by EBUS-TBNA and primary tumor(PT) specimens from January 2014 to January 2016 in the People's Hospital of Zhengzhou University were selected.EGFR genetic mutations were detected in patients with paired specimens through amplification refractory mutation system (ARMS).The concordance rate of EGFR genetic mutations between LN and PT specimens were compared,and the disease control rate between patients with different EGFR genetic mutations was evaluated.Results Of the 72 patients,at least one EGFR mutation was detected in 34 cases (47.2％),which included PT(n =33) and LN (n =30) specimens.Major mutations included exon 19 deletion and exon 21 L858R mutation.The concordance rate of EGFR mutations between matched PT and LN specimens was 88.9％ (64/72).T790M was detected in LN specimen only in one case with L858R in LN and PT.Moreover,28 patients with any mutation were treated with EGFR TKI.The disease control rate was 71.4％ (20/28,16 patients with partial response and 4 patients with stable disease).There was no significant difference in the disease control rate between the concordant mutation patients and the discordant mutation patients (x2 =0.07,P ＞ 0.05).Conclusion A high concordance rate of EGFR mutations of PT and matched LN specimens offered by EBUS-TBNA is observed,it demonstrates that LN samples obtained by EBUS-TBNA from advanced non-squamous NSCLC patients can be effectively used for EGFR mutation testing.