摘要
目的探讨非小细胞肺癌(NSCLC)驱动基因突变与临床病理特征的关系。方法采用ARMS法检测NSCLC患者常见驱动基因EGFR、ALK、ROS1、KRAS、NRAS、HER2、PIK3CA、RET基因突变、融合等异常,并分析其与临床病理特征的关系。结果279例NSCLC患者EGFR基因突变率最高(41.9%,117/279),突变易发生于女性、腺癌、年龄<60岁、不吸烟、临床分期Ⅰ~Ⅱ期患者;突变类型以19-del和L858R为主,分别为53.0%(62/117)和38.5%(45/117),其次为KRAS(10.8%,30/279)、ALK(5.4%,15/279);KRAS基因突变易发生于男性,ALK基因融合易发生于年龄小于60岁的患者。检出2例EGFR基因双位点突变及5例两种不同基因共存突变。RET、ROS1、PIK3CA、HER2及NRAS基因异常发生率较低,其中NRAS基因最低。肺手术切除、肺活检、转移灶、胸水脱落细胞制蜡块标本在基因检测中差异均无统计学意义(P>0.05)。结论多基因联合检测有助于分析NSCLC驱动基因异常及可能存在的突变共存状态,在疾病进展不同时期检测可获得的肺手术切除标本、肺活检、转移灶或胸水标本,对于筛选出适用靶向药物的目标人群均具有重要意义。
Objective To investigate the characteristics of driver mutations and clinicopathological features in patients with non-small cell lung cancer(NSCLC).Methods The mutation,fusion of common driver genes EGFR,ALK,ROS1,KRAS,NRAS,HER2,PIK3CA and RET in NSCLC patients were detected by ARMS,and their relationship with clinicopathological characteristics was analyzed.Results The mutation rate of EGFR gene in 279 NSCLC patients was 41.9%(117/279),and mutations were more likely to occur in women,adenocarcinoma,age<60 years old,non-smoking and clinical stage I-II patients.The mutation types were dominated by 19-del and L858R[53.0%(62/117)and 38.5%(45/117),respectively].Followed by KRAS(10.8%,30/279),ALK(5.4%,15/279).KRAS gene mutations are more likely to occur in males,and ALK rearrangements are more likely to occur in patients younger than 60 years old.Two double site mutations of EGFR gene and five coexisting mutations of two different genes were detected.The abnormal rates of RET,ROS1,PIK3CA,HER2 and NRAS genes were low,and NRAS gene was the lowest.There was no significant difference in gene detection among lung surgical resection,lung biopsy,metastasis and pleural effusion cell blocks samples(P>0.05).Conclusion The combined detection of multiple genes is helpful to analyze the abnormality of NSCLC driver mutation and the possible mutation coexistence.The detection of lung surgical resection,lung biopsy,metastasis or pleural effusion cell blocks samples at different stages of disease progression is of great significance for screening the target population suitable for targeted drugs.
作者
孙岚
毕阔
刘伟
滕孝静
陈光勇
SUN Lan;BI Kuo;LIU Wei(Department of Pathology,Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China.)
出处
《临床和实验医学杂志》
2022年第19期2028-2032,共5页
Journal of Clinical and Experimental Medicine
基金
国家重点研发计划项目(编号:2020YFC2004800)。
关键词
非小细胞肺癌
驱动基因
基因突变
临床病理特征
Non-small cell lung cancer
Driver mutation
Gene mutation
Clinicopathological features
