Zhao Jing, Gao Jie, Guo Liping, Hu Xiaoxu, Liu Qi, Zhao Jinyin, Liu Licheng, Jiang Jun, Wang Mengzhao, Liang Zhiyong, Xu Yan, Chen Minjiang, Zhang Li, Li Longyun, Zhong Wei
Department of Respiratory Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Zhongguo Fei Ai Za Zhi. 2017 Sep 20;20(9):617-622. doi: 10.3779/j.issn.1009-3419.2017.09.05.
Epidermal growth factor receptor (EGFR) and KRAS gene are important driver genes of non-small cell lung cancer (NSCLC). The studies are mainly focused on detection of EGFR gene for advanced NSCLC, and the mutation feature of EGFR and KRAS gene in early NSCLC tissue is unknown. This study aims to investigate the mutations of EGFR and KRAS gene in NSCLC, and the relationship between the genotype and clinicopathologic features.
The hotspot mutations in EGFR and KRAS gene in 754 tissue samples of stage I-IIIa NSCLC from Department of Pathology, Peking Union Medical College Hospital were detected by modified amplification refractory mutation system (ARMS) real-time PCR kit, and analyzed their correlation with clinical variables.
The hotspot mutation rates in EGFR and KRAS were 34.5% and 13.1% respectively, and there were EGFR-KRAS double mutations in 3 samples. The mutation rate of EGFR was higher in females than that in males (39.5% vs 29.4%, P=0.076), significantly increased in adenocarcinomas (38.7%) compared to that in the other forms of NSCLC (P<0.01), but still lower than that reported in some Asian studies of advanced adenocarcinoma (-50%). Meanwhile, the mutation rate of KRAS was remarkably higher in males than that in females (16.6% vs 9%, P=0.048), increased in adenocarcinomas compared to that in the other forms of NSCLC, but the difference was not significant (P=0.268). Samples harbored EGFR mutation were younger than those harbored KRAS mutation (P=0.031,5), and had significant difference in gender between the two groups (P<0.01).
The mutation rate of EGFR in stag I-IIIa NSCLC patients was lower than that in advanced NSCLC patients. And the percentage of the NSCLC patients with EGFR-KRAS double mutations is 0.9%.
表皮生长因子受体（EGFR）和KRAS基因是非小细胞肺癌（NSCLC）的重要驱动基因。目前研究主要集中于晚期NSCLC的EGFR基因检测，早期NSCLC组织中EGFR和KRAS基因的突变特征尚不清楚。本研究旨在探讨NSCLC中EGFR和KRAS基因的突变情况，以及基因型与临床病理特征之间的关系。
采用改良的扩增阻滞突变系统（ARMS）实时荧光定量PCR试剂盒，检测北京协和医院病理科754例Ⅰ-Ⅲa期NSCLC组织样本中EGFR和KRAS基因的热点突变，并分析其与临床变量的相关性。
EGFR和KRAS基因的热点突变率分别为34.5%和13.1%，3例样本存在EGFR-KRAS双突变。EGFR突变率女性高于男性（39.5%对29.4%，P=0.076），腺癌中的突变率（38.7%）显著高于其他类型的NSCLC（P<0.01），但仍低于一些亚洲关于晚期腺癌研究报道的突变率（-50%）。同时，KRAS突变率男性显著高于女性（16.6%对9%，P=0.048），腺癌中的突变率高于其他类型的NSCLC，但差异无统计学意义（P=0.268）。携带EGFR突变的样本比携带KRAS突变的样本年轻（P=0.0315），两组间性别差异有统计学意义（P<0.01）。
Ⅰ-Ⅲa期NSCLC患者中EGFR的突变率低于晚期NSCLC患者。EGFR-KRAS双突变NSCLC患者的比例为0.9%。
