本文選題：肺腫瘤 + 非小細胞肺癌�。� 參考：《臨床與實驗病理學雜志》2017年07期

【摘要】：目的采用等位基因特異性PCR法檢測肺癌患者循環(huán)腫瘤DNA(ctDNA)和腫瘤組織樣本中表皮生長因子受體(epidermal growth factor receptor,EGFR)突變,分析兩者關系及檢測ctDNA EGFR突變的臨床應用價值。方法收集22例非小細胞肺癌(non-small cell lung cancer,NSCLC)患者的血液樣本和腫瘤組織樣本,提取相應血漿游離DNA(cfDNA)和腫瘤組織DNA(tDNA),通過等位基因特異性PCR法分別檢測EGFR第18~21號外顯子突變,并將兩種樣本結果進行比較分析。結果 22例NSCLC中,8例血液樣本存在EGFR突變,突變率36.4%(8/22);13例腫瘤組織樣本有EGFR突變,突變率59.1%(13/22);16例血液樣本和腫瘤組織樣本EGFR檢測結果完全一致。以tDNA檢出結果為標準,ctDNA診斷EGFR基因突變敏感度為61.5%,特異度為100%;與tDNA結果的一致率為72.7%。結論等位基因特異性PCR法檢測ctDNA的EGFR基因突變,為無法獲取腫瘤組織標本患者提供新的檢測機會。
[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.
【作者單位】： 東南大學附屬中大醫(yī)院病理科;
【分類號】：R730.43

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