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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。
Background and Objectives: The incidence of lung cancer and cancer-related mortality rank the highest among malignant tumors in the world at present. Lung cancer also exists a variety of driver genes. The differences between peoples reflect differences in different genetic mutations in lung cancer. The aim of this study was to investigate the expression of lung cancer-driven genes in Uigur patients in Xinjiang. METHODS: Forty-three patients with Uighur lung cancer were collected. The expression of EGFR gene was detected by amplification refractory mutation system (ARMS). Real-time fluorescent quantitative polymerase chain reaction (RTFQ) -PCR) was used to detect the expression of K-ras, ALK, ROS1, BRAF and PIK3CA genes in patients with Uigur lung cancer and their clinical pathological features were analyzed. Results: The mutation rate of EGFR gene was 11.63% in 43 specimens. The positive rate of EGFR gene mutation in adenocarcinoma and squamous cell carcinoma was 26.67% and 4.76% respectively. No detection was found in large cell carcinoma, adenosquamous carcinoma and small cell lung carcinoma EGFR gene mutation. The mutation rate of EGFR gene in lung adenocarcinoma was 26.67%, which was significantly higher than that in non-adenocarcinoma (3.57%), the difference was statistically significant (P = 0.024). Among the 6 K-ras12 / 13 heterozygous mutations, the mutation detection rate was 16.28% (6/43). Two cases of PIK3CA heterozygous mutation showed a mutation rate of 4.65% (2/43). One case of EGFR gene and K-ras gene mutation. The mutation of EGFR gene in Uygur lung cancer patients had no correlation with age, sex, smoking status, TNM stage and ECOG score. No samples of 43 ALK, ROS1 fusion gene and BRAF gene mutation. CONCLUSION: Compared with the Asian population, the frequency of EGFR mutation in KURS patients is low in Xinjiang Uygur nationality, and the mutation rate of K-ras is high, which is similar to the mutation in European and American Caucasians.