xTAG液相芯片技术用于肺癌EGFR基因突变检测的临床适用性  

Clinical applicability of xTAG liquidchip technology as EGFR mutations detection method in lung cancer

作　　者：郭元杰[1] 汪威[1] 付莎[1] 刘芳[1] 郭婧[1] 邵建永[1] 

机构地区：[1]中山大学肿瘤防治中心分子诊断科、华南肿瘤学国家重点实验室、国家新药(抗肿瘤药物)临床试验研究中心,广州510060

出　　处：《临床与实验病理学杂志》2014年第11期1242-1246,共5页Chinese Journal of Clinical and Experimental Pathology

摘　　要：目的分析肺癌EGFR基因第18-21号外显子突变,以Sanger测序法为参照,探讨x TAG液相芯片用于临床样本检测的适用性。方法随机选择1 139例Ⅰ-Ⅳ期肺癌组织标本,提取DNA,分别采用x TAG液相芯片法和Sanger测序法检测EGFR基因第18-21号外显子突变情况,评价x TAG液相芯片法检测的敏感性和特异性。结果液相芯片法：共1 134例患者获得基因突变检测结果,Sanger测序法：共1 105例患者获得基因突变检测结果,检测成功率分别为99.56%和97.01%。以Sanger测序法为参照,x TAG液相芯片法检测的敏感性和特异性分别为99.59%和94.54%,两种方法均检出少数样本存在双外显子突变。两种方法检测出的突变型别完全吻合。结论采用x TAG液相芯片法可有效检测肺癌EGFR基因突变,实现突变分型,且相对测序法更方便、高效,适合临床推广应用。Purpose To analyze EGFR exon 18 - 21 gene mutations in lung cancer,and compare x TAG liquidchip technology and Sanger sequencing technology in clinical practice. Methods 1139 tumor tissue samples from phase Ⅰto Ⅳ lung cancer patients were randomly collected. DNA was extracted from the samples. EGFR gene mutation status in exon 18 - 21 was detected by x TAG liquidchip technology and Sanger sequencing technology respectively. Results The mutation status of EGFR was obtained by x TAG liquidchip technology in 1134 patients,and 1105 by Sanger sequencing technology,detection success rate was 99. 56% and 97. 01% respectively. The sensitivity and specificity of x TAG liquidchip technology Comparing with Sanger sequencing was 99. 59% and 94. 54%. Several cases of multiple mutations were detected by both methods. All mutation types detected by two methods are fully consistent. Conclusions Comparing with Sanger sequencing technology,x TAG liquidchip technology,which is able to detect mutations of exon 18 - 21 simultaneously,is more convenient and efficient for EGFR gene mutation detection in lung cancer.

关 键 词：肺肿瘤 EGFR突变 x TAG液相芯片 Sanger测序 

分 类 号：R734.2[医药卫生—肿瘤]