非小细胞肺癌EGFR基因突变分析

发布时间：2018-03-17 12:02

  本文选题：非小细胞肺癌　切入点：表皮生长因子受体基因检测　出处：《皖南医学院》2016年硕士论文　论文类型：学位论文

【摘要】：目的:探索芜湖地区非小细胞肺癌患者表皮生长因子受体(EGFR)基因突变类型、突变位点、突变频率及其与临床病理特征的相关性。方法:收集皖南医学院第一附属医院2013年10月至2015年10月之间167例非小细胞肺癌患者石蜡包埋组织,用突变扩增阻滞系统(ARMS)法进行EGFR基因18~21外显子及S768I、T790M突变的检测,并分析EGFR基因突变类型、突变位点、突变频率及其与临床病理特征的相关性。结果:167例非小细胞肺癌标本中有87例检测出EGFR基因突变阳性,总检出率52.10%。突变类型包括Exon18的突变率为5.75%(5/87)、Exon19的突变率为48.38%(42/87)、Exon20的突变率为4.6%(4/87)、Exon21的突变率为37.93%(33/87)、S768I的突变率为1.15%(1/87)、T790M突变率为1.15%(1/87)、双突变率为2.30%(2/87),有1例19和21外显子双突变,有1例21外显子和T790M双突变。女性患者突变率(72.86%)较男性患者突变率(37.11%)高,二者差异有统计学意义(P=0.000);不吸烟患者突变率(68.48%)较吸烟患者突变率(32.00%)高,二者差异有统计学意义(P=0.000);肿瘤病理学类型为腺癌患者突变率(57.75%)较非腺癌患者突变率(20.00%)高,二者差异有统计学意义(P=0.001);年龄≥60岁患者突变率(51.40%)较年龄60岁患者突变率(47.76%)高,二者差异无统计学意义(P=0.811);高分化肿瘤组织突变率为57.14%、中分化肿瘤组织突变率为57.69%、低分化肿瘤组织突变率为35.90%,三者之间差异无统计学意义(P=0.065);活检组织标本突变率为51.61%、手术标本突变率为53.85%、细胞标本突变率为52.94%,三者之间差异无统计学意义(P=0.976)。结论:EGFR基因突变位点多见于Exon19、Exon21,临床多见于女性、不吸烟、腺癌患者。其突变阳性率与年龄、肿瘤组织分化程度及标本来源无关。
[Abstract]:Objective: to explore the mutation type and mutation site of epidermal growth factor receptor (EGFR) gene in patients with non-small cell lung cancer (NSCLC) in Wuhu area. Methods: the paraffin embedded tissues of 167 patients with NSCLC from October 2013 to October 2015 were collected from the first affiliated Hospital of Southern Anhui Medical College. Mutation amplification block system (AMS) was used to detect the mutations of exon 18F21 of EGFR gene and S768IXT790M, and to analyze the mutation type and mutation site of EGFR gene. Results the mutation frequency and its correlation with clinicopathological features were detected in 87 out of 167 non-small cell lung cancer specimens, and EGFR gene mutation was detected in 87 out of 167 non-small cell lung cancer specimens. The total detection rate was 52.10.The type of mutation included Exon18 was 5.75% 587% Exon19 mutation rate was 48.38% 4287% exon20 mutation rate was 4.66% 487% exon 21 mutation rate was 37.93% 873% 87S768I mutation rate was 1.151r-87% T790M mutation rate was 1.15187% T 790M mutation rate was 1.15187%, double mutation rate was 2.30% 2 / 87%, there were 1 case 19 and 21 exon double mutation. In one case, the mutation rate of exon 21 and T790M was 72.86) higher than that of male patients (P < 0.000), and the mutation rate of non-smoking patients (68.48%) was higher than that of smoking patients (32.00%). The difference between the two groups was statistically significant (P < 0.000); the mutation rate was 57.75% in patients with adenocarcinoma and 20.00% in non-adenocarcinoma patients, and the difference was statistically significant (P < 0.001). The mutation rate of patients aged 鈮，

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