扩增阻滞突变系统法检测非小细胞肺癌微小标本表皮生长因子受体突变  

Detection of epidermal growth factor receptor mutations in small specimens of non-small cell lung cancer by ampli cation refractory mutation system

作　　者：任睿欣[1] 李嘉瑜[1] 李雪飞[1] 陈秀[1] 任胜祥[2] 周彩存[2] 

机构地区：[1]同济大学附属上海市肺科医院肺癌免疫实验室,上海200433 [2]同济大学附属上海市肺科医院肿瘤科,上海200433

出　　处：《肿瘤》2012年第11期929-935,共7页Tumor

基　　金：国家自然科学基金资助项目(编号:81172101);上海市科委基础研究重点项目(编号:11JC1411300)

摘　　要：目的:探讨非小细胞肺癌(non-small cell lung cancer,NSCLC)微小标本代替大体标本用于扩增阻滞突变系统(ampli cation refractory mutation system,ARMS)法检测表皮生长因子受体(epidermal growth factorreceptor,EGFR)基因突变的可行性。方法:181例NSCLC标本纳入本研究,包括157例微小标本(分别为CT引导下经皮肺穿刺活检标本、支气管内超声引导下针吸活检标本、淋巴结活检标本、支气管镜活检标本和胸腔积液)和24例大体标本。采用QIAGEN DNA提取试剂盒提取标本组织DNA,然后使用AmoyDx人类EGFR基因4种突变荧光PCR检测试剂盒检测EGFR基因的突变情况,最后采用χ2检验或Fisher精确检验比较微小标本与大体标本的EGFR突变检出率。结果:181例标本中,EGFR的总突变率为39.8%(72/181);其中微小标本的EGFR突变检出率为38.9%,大体标本的EGFR突变检出率为45.8%,2者间差异无统计学意义(P=0.515)。EGFR突变率在不吸烟患者(P=0.033)和腺癌患者(P<0.001)中显著增高。结论:ARMS法检测NSCLC微小标本也能获得较高的EGFR突变检出率。对于晚期难以获得大体标本的NSCLC患者,微小标本可代替大体标本应用于临床EGFR突变检测。Objective： To explore the feasibility of the application of small specimens as alternatives of gross specimens to detect EGFR （epidermal growth factor receptor） mutation in NSCLC （non-small cell lung cancer） by ARMS （amplification refractory mutation system）. Methods： Biopsy specimens from 181 cases of NSCLC were collected, in which 157 were small specimens （including specimens acquired through CT-guided percutaneous lung biopsy, endobronchial ultrasound-guided transbronchial needle aspiration, lymph node biopsy, bronchoscopic biopsy and aspiration of pleural effusion） and 24 were gross specimens. QIAGEN DNA extraction kit was used to extract DNAs from NSCLC specimens. Then AmoyDx EGFR Mutation Test Kit — a highly sensitive real-time PCR-based test was used to detect EGFR mutations. The detection rates of EGFR mutations in small specimens and gross specimens were compared by Chi-square test or Fisher’s exact test. Results： The total EGFR mutation detection rate of all biopsy specimens was 39.8% （72/181）. The detection rates of small specimens and gross specimens were 38.9% and 45.8%, respectively （P = 0.515）. Furthermore, EGFR mutation frequencies were significantly higher in non-smokers （P = 0.033） and in patients with adenocarcinoma （P 〈 0.001）. Conclusion： A relatively high detection rate of EGFR mutation in NSCLC small specimens can be obtained through ARMS. For patients with advanced NSCLC whose gross specimens cannot be easily obtained, the alternative small specimens can be used in clinical EGFR mutation detection.

关 键 词：癌 非小细胞肺 受体 表皮生长因子 DNA突变分析 ARMS 

分 类 号：R734.2[医药卫生—肿瘤]