中国癌症杂志 ›› 2017, Vol. 27 ›› Issue (1): 14-19.doi: 10.19401/j.cnki.1007-3639.2017.01.003

• 论著 • 上一篇    下一篇

中国新疆维吾尔族人群中肺癌驱动基因的表达

张淑娟1,2,常建华2,王 磊1,阿提坎·卡吾力1   

  1. 1. 新疆维吾尔自治区喀什地区第二人民医院肿瘤科,新疆 喀什844000 ;
    2. 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,上海200032
  • 出版日期:2017-01-30 发布日期:2017-02-23
  • 通信作者: 阿提坎·卡吾力 E-mail:atikan0998@163.com
  • 基金资助:
    新疆维吾尔自治区科技支疆项目(2013911115)。

The expression of driver genes in Uyghur patients with lung cancer in Xinjiang China

ZHANG Shujuan1,2, CHANG Jianhua2, WANG Lei1, ATIKAN·Kawuli1   

  1. 1.Department of Medical Oncology, Kashgar Prefecture Second People’s Hospital, Kashgar 844000, Xinjiang Uyghur Autonomous Region, China; 2. Department of Medical Oncology, Fudan University Shanghai Cancer Center; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
  • Published:2017-01-30 Online:2017-02-23
  • Contact: ATIKAN·Kawuli E-mail: atikan0998@163.com

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-rasALKROS1、BRAFPIK3CA 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ALKROS1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。

关键词: 肺癌 , 维吾尔族, 驱动基因

Abstract: Background and purpose: Lung cancer is the leading cause of morbidity and cancer-related mortality worldwide. A variety of driver genes were detected in lung cancer. Studies have shown that different gene mutations of lung cancer were found between different races. Most of Uyghurs live in Xinjiang, accompanied by a high morbidity of lung cancer. This study aimed to investigate the expression of driver genes in Uyghur patients with lung cancer in Xinjiang, China. Methods: This study collected the tissue specimens of 43 Uyghur patients with lung cancer, with a very different method to detect EGFR gene expression. real-time fluorescent quantitative polymerase chain reaction (RTFQ-PCR) was used to detect K-ras, ALK, ROS1, mutated BRAF and PIK3CA gene expression. Analysis of the correlation between lung cancer gene mutations in Uyghur and clinical features of patients with lung cancer were performed. Results: Among 43 cases of specimens, EGFR mutation rate was 11.63%, while the EGFR gene mutation rates in adenocarcinoma and squamous cell carcinoma were 26.67% and 4.76%, respectively. EGFR gene mutation was not detected in large cell carcinoma, adenosquamous carcinoma and small cell lung cancer. EGFR gene mutation rate in patients with adenocarcinoma (26.67%) was significantly higher than that in other types of lung cancer (3.57%). The difference was statistically significant  P=0.024). There were 6 patients with K-ras12/13 heterozygous mutation, and the mutation detection rate was 16.28% (6/43). There were 2 patients with PIK3CA heterozygous mutation, and the mutation detection rate was 4.65% (2/43). EGFR and K-ras mutations occurred simultaneously in 1 case. No relationship was found between EGFR mutations and age, gender, smoking status, TNM staging, ECOG score among Uyghur lung cancer patients. This study did not find mutation in ALK, ROS1 fusion gene and BRAF gene among the 43 specimens. Conclusion: Compared with Asian populations, Xinjiang Uyghur patients with lung cancer have a lower rate of EGFR mutations and a higher rate of K-ras mutations, which is similar to the characteristics of European Caucasians.

Key words: Lung cancer, Uygur, Driver gene