【摘要】：目的探討云南地區(qū)非小細胞肺癌外周血中表皮生長因子受體(epidermal growth factor receptor,EGFR)基因突變及與臨床病理特征的關(guān)系,為該地區(qū)的肺癌個體化靶向治療奠定基礎(chǔ)。方法應用突變擴增阻滯系統(tǒng)(amplification refractory mutation system,ARMS)檢測非小細胞肺癌(non-small cell lung cancer,NSCLC)外周血中EGFR基因第18、19、20及2l外顯子突變情況,統(tǒng)計分析各類突變與患者臨床病理特征的相關(guān)性。結(jié)果在364例患者中,EGFR基因突變者93例(25.5%)。其中EGFR 18 G719X突變占3.2%(3/93),EGFR 19缺失突變占48.4%(45/93),EGFR 20 S768I、T790M、20ins突變分別占3.2%(3/93)、2.2%(2/93)、3.2%(3/93),EGFR 21 L858R、L861Q突變分別占26.9%(25/93)、1.1%(1/93);雙突變比例占11.8%,其中3例樣本3.2%(3/93)存在G719X、S768I雙突變,4例樣本4.3%(4/93)存在19Del、T790M雙突變,1例樣本1.1%(1/93)存在19Del、L858R雙突變,1例樣本1.1%(1/93)存在L858R、S768I雙突變,2例樣本2.2%(2/93)存在S768I、T790M雙突變。EGFR基因突變與患者性別、臨床分期、組織學類型相關(guān)(P0.005),而與患者年齡、是否吸煙無明顯相關(guān)(P0.05)。結(jié)論云南地區(qū)ⅢB~Ⅳ期NSCLC患者外周血中,女性腺癌突變率較高,且該地區(qū)NSCLC患者外周血EGFR基因突變存在外顯子19缺失突變?yōu)橹骷半p突變率較高的特征。使用ARMS技術(shù)檢測NSCLC患者外周血EGFR基因突變可為臨床使用EGFR-TKIs提供準確的指導。
[Abstract]:Objective to investigate the mutation of epidermal growth factor receptor (epidermal growth factor receptor,EGFR) gene in peripheral blood of non-small cell lung cancer (NSCLC) in Yunnan and its relationship with clinicopathological features, and to lay a foundation for individualized targeted therapy of lung cancer in Yunnan. Methods mutation amplification block system (amplification refractory mutation system,ARMS) was used to detect the mutation of exon 18M19 and exon 21 of EGFR gene in peripheral blood of patients with non-small cell lung cancer (non-small cell lung cancer,NSCLC). The correlation between all kinds of mutations and clinicopathological features of patients was analyzed statistically. Results among 364 patients, 93 (25.5%) had mutation of EGFR gene. Among them, EGFR 18 G719X mutation accounted for 3.2% (3 / 93), EGFR 19 deletion mutation 48.4%) (45 / 93), EGFR 20 S768IX T790MN 20ins mutation accounted for 3.2% (3 / 93), 2.2% (2 / 93), 3.2% (3 / 93), respectively. EGFR 21 L858RV L861Q mutation accounted for 26.9% (25 / 93) and 1.1% (1 / 93), respectively. The rate of double mutation was 11.80.There were 3 cases (3 / 93) with G719XX S768I double mutation, 4 cases with 4.3% (4 / 93) with 19Delt T790M double mutation, 1 case with 1% (1 / 93) with 19Dell. The L858R double mutation was found in 1 case (1 / 93) and 2 cases (2.2% (2 / 93). The mutation of EGFR gene was associated with the patient's sex and clinical stage. Histological type was correlated (P0.005), but there was no significant correlation with age, smoking or not (P0.05). Conclusion the mutation rate of female adenocarcinoma is higher in peripheral blood of patients with stage 鈪，

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