目的多途径标本检测进展期非小细胞肺癌( aN-SCLC)患者表皮生长因子受体( EGFR)突变，及突变状态与患者临床病理学特征、标本来源及血清癌胚抗原( CEA)的关系。方法收集aNSCLC患者组织、细胞学及血浆标本，采用QIAGEN 公司新推出的 QIAamp Circulating Nucleic Acid Kit提取血浆循环游离DNA(cfDNA)，使用蝎形探针扩增阻滞突变系统( sARMS)对提取DNA进行EGFR突变检测。结果103例aNSCLC患者组织(或细胞)学标本检测EGFR突变率为48.5%(50/103)，与吸烟史、病理类型相关( P <0.05)；与性别、年龄、身体状态评分、分期、血清 CEA 值无关；转移灶组突变率(58.6%)较原发灶组(35.6%)高，含有恶性胸腔积液(MPE)患者EGFR突变率(67.5%)较无MPE者(36.5%)高(P<0.05)；29例血浆与组织(或细胞)学标本配对检测中，血浆阳性率为37.9%(11/29)，敏感性为43.7%(7/16)，特异性为69.2%(9/13)。结论 aNSCLC患者EGFR突变在非吸烟、腺癌人群中高发，与性别、年龄、血CEA、分期、身体状态无关。转移灶EGFR突变率较原发灶高，并发MPE 患者EGFR 突变率较无MPE 者高。使用 QIAamp Circulating Nucleic Acid Kit 提取血浆cfDNA 检测 EGFR 突变敏感性尚可，如降低成本，可作为组织标本的补充。由于肿瘤异质性的存在，应尽可能获取不同部位的肿瘤组织用于检测。%Objective To detect epidermal growth factor receptor ( EGFR) mutations with multiple pathways speci-mens in advanced non-small cell lung cancer ( aNSCLC) patients,and study the relationship between EGFR muta-tion and specimen source,clinical features,pathological features,stage, the value of serum serum carcinoembryonic antigen (CEA). Methods Multiple pathways specimens like tumor tissue,cytology and plasma in aNSCLC pa-tients were collected. QIAGEN’s new QIAamp Circulating Nucleic Acid Kit was used to extract cfDNA in plasma, scorpion probe amplification refractory mutation system ( sARMS) was used for EGFR mutation test. Results The EGFR mutation rate of 103 cases in patients with NSCLC used tissue or cytology specimens was 48.5%(50/103). There was a significant correlation between EGFR mutation smoking history and histological type ( P<0.05 ) . No correlation with gender,age, physical status score, stage and the value of serum CEA. The mutation rate of metas-tases source group ( 58.6%) was higher than the primary tumor source group ( 35.6%) . Patients with malignant pleural effusions (67.5%) were higher than those without pleural effusion (36.5%) (P<0.05);verses tissue or cytology specimens,the EGFR mutation positive rate in 29 cases of paired plasma samples was 37.9%( 11/29 ) , sensitivity was 43.7%(7/16)and specificity was 69.2%(9/13). Conclusion aNSCLC patients with EGFR gene mutation were usually observed in non-smoking and adenocarcinoma patients. There is no significant difference with gender,serum carcinoembryonic antigen,clinical stage and physical status. The EGFR mutation rate is higher in pa-tients with malignant pleural effusion than patients without. Using QIAamp Circulating Nucleic Acid Kit for extrac-ting cfDNA in plasma to detect EGFR mutation,the sensitivity is acceptable. If cheap, plasma may be a comple-mentary approach for tumor tissue. Due to the existence of intratumoral EGFR mutational heterogeneity, obtaining different parts of the tumor tissue is essential.
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