等位基因特异性PCR法对血液和肿瘤组织EGFR基因突变的比较

发布时间：2018-04-16 16:27

本文选题：肺肿瘤 + 非小细胞肺癌　；参考：《临床与实验病理学杂志》2017年07期

【摘要】：目的采用等位基因特异性PCR法检测肺癌患者循环肿瘤DNA(ctDNA)和肿瘤组织样本中表皮生长因子受体(epidermal growth factor receptor,EGFR)突变,分析两者关系及检测ctDNA EGFR突变的临床应用价值。方法收集22例非小细胞肺癌(non-small cell lung cancer,NSCLC)患者的血液样本和肿瘤组织样本,提取相应血浆游离DNA(cfDNA)和肿瘤组织DNA(tDNA),通过等位基因特异性PCR法分别检测EGFR第18~21号外显子突变,并将两种样本结果进行比较分析。结果 22例NSCLC中,8例血液样本存在EGFR突变,突变率36.4%(8/22);13例肿瘤组织样本有EGFR突变,突变率59.1%(13/22);16例血液样本和肿瘤组织样本EGFR检测结果完全一致。以tDNA检出结果为标准,ctDNA诊断EGFR基因突变敏感度为61.5%,特异度为100%;与tDNA结果的一致率为72.7%。结论等位基因特异性PCR法检测ctDNA的EGFR基因突变,为无法获取肿瘤组织标本患者提供新的检测机会。
[Abstract]:Objective to detect the mutation of epidermal growth growth factor receptor (EGFR) and epidermal growth factor receptor (epidermal growth factor receptor) in patients with lung cancer by allele-specific PCR method, and to analyze the relationship between them and the clinical application value of ctDNA EGFR mutation.Methods Blood samples and tumor tissue samples were collected from 22 patients with non-small cell lung cancer of non-small cell lung cancer (NSCLC). The corresponding free DNAcfDNAs and tumor tissue DNAs were extracted. The mutation of exon 1821 of EGFR was detected by allele-specific PCR method.The results of two kinds of samples were compared and analyzed.Results there was EGFR mutation in 8 blood samples of 22 cases of NSCLC, the mutation rate was 36.4% and the mutation rate was 36.4%. EGFR mutation was found in 13 cases of tumor tissue samples. The mutation rate was 59. 1% and 13% 22%. The results of EGFR detection in 16 blood samples were consistent with those in tumor tissue samples.The sensitivity and specificity of EGFR gene mutation were 61.5 and 100, respectively, and the coincidence rate with tDNA was 72.7%.Conclusion Allele-specific PCR assay for detection of EGFR gene mutation in ctDNA may provide a new opportunity for detection of tumor tissue samples.
【作者单位】：东南大学附属中大医院病理科;
【分类号】：R730.43

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