关于突变特异性抗体检测肺腺癌EGFR基因突变临床应用的研究探讨  

Clinical application of the detection of EGFR gene mutations in lung adenocarcinoma

作　　者：李倩[1] 子建文[1] 张玉岭[1] 唐辉[1] 李璇[1] 

机构地区：[1]中国人民解放军第六十中心医院检验科,云南671003

出　　处：《检验医学与临床》2015年第A01期194-197,共4页Laboratory Medicine and Clinic

摘　　要：目的研究探讨突变特异性抗体检测肺腺癌EGFR基因突变的临床应用。方法选取2010年3月至2013年5月间来本院就诊的肺腺癌90例，采用ARMS法检测EGFR基因突变和IHC检测EGFR突变蛋白的表达。结果用ARMs法检测EGFR基因作为标准对照，本组90例肺腺癌石蜡组织标本，检出EGFR基因突变46例，其中有L858R突变20例，L861Q突变9例，外显子19缺失17例，野生型的基因突变有44例；采用EGFR（L858R）特异性抗体进行IHC标记，其中，阳性检出率为19％，特异性为95％，敏感性为80％，准确性为93％，阳性预测值为72％，阴性预测值为96％。如果阳性检测的阈值为2＋，且不具有假阳性病例，敏感性为6l％；采用EGFR基因外显子19（15bp，E746-A750）缺失特异性抗体进行IHC标记，其中，阳性检出率为20％，特异性为80％，敏感性为为82％，准确性为81％，阳性预测值为48％，阴性预测值为95%。如果阳性阈值定为2＋，且出现假阳性1例，敏感性为52％；参照临床结果，结合EGFR（L858R）突变和EGFR基因外显子19（15bp，E746-A750）缺失特异性抗体IHC标记的结果综合判断，对其进行评价。经统计学分析，二者差异显著（P〈0．05）。本研究共6例肺腺癌骨转移标本，将其通过抗体免疫标记，结果显示，有2例存在外显子21点L858R突变，余下4例为未出现病变，与AMRS法检测结果相一致。结论检测EGFR基因突变对临床诊断治疗肿瘤有着重要的意义，ARMS法检测EG-FR基因突变具有灵敏度高、操作简便、结果判断容易等优点，但是该法存在自身的弊端，而采用IHC法检测EGFR突变蛋白对于患者的个体化治疗能弥补上述方法的不足，具有临床推广价值。Objective To study the mutation to explore specific antibody detection of clinical application of lung adenocarcinoma EGFR gene mutation. Methods Between March 2010 - May 2013 to our hospital 90 cases of patients with lung adenocarcinoma, very different method is used to detect EGFR gene mutation and IHC testing protein expression of EGFR mutations. Results With very different method to detect EGFR gene as standard controls, this group of 90 cases with lung adenocarcinoma paraffin tissue samples, detection of EGFR mutations in 49 cases, 20 cases with L858 R mutations,lack exon 19 17 cases, L861 Q mutations in 9 cases, wild type gene mutations in 44 cases ; Using EGFR L858（R） specific antibody to IHC tags, among them, the positive detection rate of 19%, specificity of 95%, the sensitivity was 80 % ,the accuracy was 93 ~, positive predictive value was 72%, negative predictive value of 96 %. If positive detection threshold of 2＋, and have no false positive cases and sensitivity is 61%; The EGFR gene exon 19 （15 bp, E746-A750） lack specificity antibodies for IHC tags, among them, the positive detection rate of 20%, specificity of 80%, the sensitivity of 82%, the accuracy was 81%, positive predictive value was 48%, negative predictive value of 95%. If positive threshold as 2 ＋ ,and a false positive in 1 case,the sensitivity is 52% ;Reference to clinical results,combining with the EGFR mutation L858（R） and EGFR gene exon 19（15 bp, E746-A750） lack specificity antibodies IHC marking the result of the comprehensive judgment, to evaluate it. Statistics analysis, signifi- cant difference between them（P 〈 0.05）. This study,a total of 6 cases of bone metastasis from adenocarcinoma of lung specimens,its by antibody immune markers,the results show that there are 2 cases of exon 21 L858R mutations,the rest does not appear in 4 lesions,test results are consistent with those of the AMRS method. Conclusion The detection of EGFR mutations has important significance in clinical diagnosis and treatment tumor

关 键 词：突变特异性抗体 肺腺癌 EGFR 基因突变 临床应用 研究 探讨 

分 类 号：R734.2[医药卫生—肿瘤]