单中心非小细胞肺癌患者KRAS基因突变分析

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摘要目的分析单中心非小细胞肺癌（NSCLC）患者KRAS基因突变情况。方法收集广东省农垦中心医院2016年12月—2020年10月经病理确诊的210例NSCLC患者的肿瘤组织或外周血样本，采用高通量测序技术检测KRAS基因外显子的突变率、突变位点分布特征及其与患者特征的相关性。结果 210例NSCLC患者KRAS突变率为13.8%（29例），其中12号密码子占58.6%（17/29），13号密码子占10.3%（3/29），61号密码子占27.6%（8/29），而61号密码子绝大多数为Q61L（24.1%，7/29）。KRAS突变与患者性别相关（P < 0.05），与吸烟史、样本类型无关（P ＞ 0.05）。吸烟与密码子G12/13突变相关（P < 0.05），与密码子Q61L突变无关（P ＞ 0.05）。血浆样本和组织样本中KRAS基因突变率都与性别相关（P ＜ 0.05），与吸烟无关（P ＞ 0.05）。结论本研究NSCLC患者KRAS总突变率与东亚人群报道的突变率相似，但密码子Q61L突变频率显著高于文献报道，KRAS Q61L是该中心NSCLC患者的一个重要的驱动突变。

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	李媛媛1 向天敏2 陈思现1 陈永锋1 周素丽1 陆伟1 张桢珍2 蔡永广1

关键词 ：非小细胞肺癌, KRAS Q61L突变, 吸烟史

Abstract：Objective To analyze the mutation of KRAS gene in patients with single-center non-small cell lung cancer (NSCLC). Methods Tumor tissue or peripheral blood samples were collected from 210 NSCLC patients diagnosed by pathology in Guangdong Nongken Central Hospital from December 2016 to October 2020. High-throughput sequencing technology was used to detect the mutation rate of KRAS gene exon, the distribution characteristics of mutation sites and the correlation with patient characteristics. Results KRAS mutations rate of 210 NSCLC patients was 13.8% (29 cases). Among these KRAS-mutated cases, codon 12 mutation was observed in 58.6% (17/29), codon G13 mutation in 10.3% (3/29), Q61 mutation in 27.6% (8/29) individuals. Most (24.1%, 7/29) of the cases with Q61 mutations were Q61L. KRAS mutations were associated with the gender (P ＜ 0.05), but had no correlation with smoking history and sample types (P ＞ 0.05). Smoking history was correlated with codons G12/13 mutations (P ＜ 0.05), but had no correlation with Q61L mutation (P ＞ 0.05). KRAS mutations were associated with the gender either in tissue samples or in plasma samples (P ＜ 0.05), but had no correlation with smoking history (P ＞ 0.05). Conclusion The mutation frequency of KRAS in NSCLC patients is similar to the frequency reported in East Asian, but the frequency of KRAS codon Q61L mutation is significantly higher than that reported in the literature, suggesting that KRAS Q61L may be an important driver mutation in NSCLC patients from the single center in the current study.

Key words： Non-small cell lung cancer KRAS Q61L mutation Smoking history

基金资助:国家重点研发计划重点专项项目（2019YFC131 5801）；
广东省湛江市科技计划项目（2017A304、2017A01012）。

通讯作者: 蔡永广（1972.1-），男，主任医师；研究方向：肺癌的分子诊断及个体化医疗。

作者简介: 李媛媛（1982.1-），女，硕士，副主任医师；研究方向：肺癌的分子诊断及个体化医疗。

引用本文:

李媛媛1 向天敏2 陈思现1 陈永锋1 周素丽1 陆伟1 张桢珍2 蔡永广1. 单中心非小细胞肺癌患者KRAS基因突变分析[J]. 中国医药导报, 2021, 18(16): 34-37,45.
LI Yuanyuan1 XIANG Tianmin2 CHEN Sixian1 CHEN Yongfeng1 ZHOU Suli1 LU Wei1 ZHANG Zhenzhen2 CAI Yongguang1. Analysis of KRAS mutation in patients with a single-center non-small cell lung cancer. 中国医药导报, 2021, 18(16): 34-37,45.

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