摘要
目的探讨EGFR、KRAS基因突变及ALK、ROS1基因融合在非小细胞肺癌(non-small cell lung cancer,NSCLC)患者中的检出率,并分析与NSCLC临床病理特征的关系。方法收集NSCLC手术标本86例,采用荧光PCR法检测EGFR、KRAS突变及ALK、ROS1基因融合,并分析EGFR、KRAS、ALK及ROS1基因改变与患者性别、年龄、吸烟史、组织学类型、有无淋巴结转移等临床病理特征的相关性。结果 NSCLC肿瘤组织中驱动基因总突变率为62.8%(54/86),其中EGFR基因突变占总突变的76.0%(41/54);KRAS基因突变占总突变的9.3%(5/54);ALK基因融合占总突变的13.0%(7/54),其中1例患者存在EGFR 19缺失突变与ALK融合共存;ROS1基因融合占总突变的3.8%(2/54)。NSCLC的临床病理特征显示,EGFR基因突变在女性、腺癌患者中突变率高(P<0.05);与患者年龄、是否吸烟、有无淋巴结转移无明显相关(P>0.05);KRAS、ALK、ROS1基因改变与NSCLC的临床病理特征无明显相关(P>0.05)。结论 NSCLC中EGFR、ALK基因均存在较高的突变率,临床医师应给予高度重视;KRAS、ROS1基因改变以及驱动基因双突变共存型基因突变率虽低,但其意义重大不容忽视。
Purpose To investigate the mutation rate of EGFR, KRAS, ALK and ROS1 in non-small cell lung cancer （NSCLC） and its association with clinical or pathological char- acteristics. Methods 86 NSCLC tissues were included. Fluo- rescence PCR was used to detect the EGFR, KRAS mutation and ALK, ROS1 fusion gene. Tile association between EGFR, KRAS, ALK and ROS1 gene and age, gender, smoking history, histological type, lymph node metastasis and other clinical path- ological features were analyzed. Results The total mutation rate of the driver gene in NSCLC patients was 62. 8% （54/86）. EGFR mutation rate was 76% （41/54）. KRAS mutation rate was 9. 3% （5/54）. ALK gene fusion mutation rate was 13.0% （7/54）, and in one of the patients, EGFR 19 deletion mutationand ALK fusion co-exist. ROS1 gene fusion mutation was 3.8% （2/54）. EGFR gene mutation rate was higher in adenocarcino- ma and female （ P 〈 0. 05 ）, but no significant association was found in age, smoking history and lymph node metastasis （ P 〉 0. 05）. KRAS, ALK, ROS1 genes had no obvious correlation with clinical pathological features （ P 〉 0. 05 ）. Conclusion The EGFR mutation and ALK fusion was rather high in patients with NSCLC. More attention should be peid to them. Though KRAS, ROS1 mutations and double mutations were low in NSCLC patients, they should not be ignored.
出处
《临床与实验病理学杂志》
CSCD
北大核心
2017年第11期1183-1187,共5页
Chinese Journal of Clinical and Experimental Pathology
基金
国家自然科学基金(81460441)
云南省应用基础研究面上项目(2016FB145)
云南省卫生科技计划(2014NS001)
