中国新疆维吾尔族人群中肺癌驱动基因的表达

发布时间：2018-04-23 03:30

本文选题：肺癌 + 维吾尔族　；参考：《中国癌症杂志》2017年01期

【摘要】：背景与目的:肺癌的发病率和肿瘤相关死亡率居当前世界各地恶性肿瘤的首位。肺癌亦存在多种驱动基因。各民族间的差异反映出肺癌的不同基因突变存在差异。该研究旨在探讨新疆维吾尔族患者中肺癌驱动基因的表达状况。方法:收集维吾尔族肺癌患者组织标本43例,采用扩增受阻突变系统(amplification refractory mutation system,ARMS)检测EGFR基因表达,采用实时荧光定量聚合酶链反应(real-time fluorescent quantitative polymerase chain reaction,RTFQ-PCR)检测K-ras、ALK、ROS1、BRAF及PIK3CA基因表达,分析肺癌驱动基因突变与新疆维吾尔族肺癌患者临床病理特征之间的相关性。结果:43例标本中,EGFR基因突变率为11.63%,其中腺癌及鳞癌EGFR基因突变检出率分别为26.67%和4.76%;大细胞癌、腺鳞癌及小细胞肺癌均未测出EGFR基因突变。肺腺癌患者EGFR基因突变率为26.67%,明显高于非腺癌者的3.57%,差异有统计学意义(P=0.024)。K-ras12/13杂合突变6例,突变检出率为16.28%(6/43);PIK3CA杂合突变2例,突变检出率为4.65%(2/43)。1例发生EGFR基因与K-ras基因同时突变。维吾尔族肺癌患者EGFR基因突变与年龄、性别、吸烟状况、TNM分期、ECOG评分均无关。43例标本中均未见ALK、ROS1融合基因及BRAF基因突变。结论:与亚洲人群相比,新疆维吾尔族肺癌患者EGFR突变率较低,K-ras突变率高,类似于欧美高加索人群的突变特点。
[Abstract]:Background & objective: the incidence of lung cancer and tumor-related mortality are among the highest in the world. Lung cancer also has a variety of driving genes. The differences among different nationalities reflect the difference of different gene mutations in lung cancer. The aim of this study was to investigate the expression of lung cancer driving gene in Uygur patients in Xinjiang. Methods: the expression of EGFR gene was detected by amplification of refractory mutation system and real-time fluorescent quantitative polymerase chain reactionation by real-time fluorescent quantitative polymerase chain reaction (RTFQ-PCR) in 43 patients with lung cancer in Uygur nationality. The expression of BRAF and PIK3CA genes were detected by real-time fluorescent quantitative polymerase chain PCR. To analyze the relationship between the mutation of lung cancer driver gene and the clinicopathological features of Xinjiang Uygur lung cancer patients. Results the mutation rate of EGFR gene was 11.63% in 43 specimens, and the positive rate of EGFR gene mutation in adenocarcinoma and squamous cell carcinoma was 26.67% and 4.76%, respectively. No mutation of EGFR gene was detected in large cell carcinoma, adenosquamous carcinoma and small cell lung cancer. The mutation rate of EGFR gene in lung adenocarcinoma patients was 26.67, which was significantly higher than that in non-adenocarcinoma patients (3.57%). The difference was statistically significant in 6 cases of heterozygous mutation of EGFR gene 0.024% .K-ras 12 / 13, and 2 cases of heterozygotic mutation of EGFR gene and K-ras gene were detected in 2 cases of 16.2828% -43% PIK3CA heterozygosity, and the positive rate of mutation was 4.65% 2 / 43.1 cases. There was no correlation between EGFR gene mutation and age, sex, smoking status and EGFR score in Uygur lung cancer patients. No mutation of ALK roS1 fusion gene or BRAF gene was found in 43 samples. Conclusion: compared with Asian population, the EGFR mutation rate of Uygur lung cancer patients in Xinjiang is lower than that of K-ras mutation, which is similar to that of Caucasian population in Europe and America.
【作者单位】：新疆维吾尔自治区喀什地区第二人民医院肿瘤科;复旦大学附属肿瘤医院肿瘤内科复旦大学上海医学院肿瘤学系;
【基金】：新疆维吾尔自治区科技支疆项目(2013911115)
【分类号】：R734.2

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