非小细胞肺癌罕见驱动基因突变特点及其与临床病理特征的相关性  

Rare driver mutations of non-small cell lung cancer and its correlation with clinicopathological features

作　　者：王也[1] 杨磊[1] 于芳[1] 姜睿盈 王蓓[1] 赵玲 陈皇[1] 王晓伟[1] 钟定荣 WANG Ye;YANG Lei;YU Fang(Department of Pathology,China-Japan Friendship Hospital,Beijing 100029,China)

机构地区：[1]中日友好医院病理科,北京100029

出　　处：《中日友好医院学报》2020年第4期209-213,F0002,共6页Journal of China-Japan Friendship Hospital

摘　　要：目的:分析非小细胞肺癌罕见驱动基因突变特点及其与临床病理特征的相关性。方法:收集中日友好医院病理科2018年11月~2019年12月间送检的630例非小细胞肺癌患者手术切除标本。使用荧光定量PCR法对标本的驱动基因进行联合检测,包括EGFR、KRAS、NRAS、BRAF、PIK3CA、HER2基因突变,以及ALK、ROS1、RET基因融合。结果:标本整体基因突变阳性率为63.49%,融合阳性率为6.35%,全部野生型的病例占30.16%。罕见驱动基因改变占全部驱动基因改变的27.27%(120/440)。EGFR突变病例中,罕见突变位点占9.63%(31/322)。EGFR20外显子插入突变及HER2突变均与患者年龄负相关(r=-0.108、r=-0.191,P<0.05)。RAS突变与肿瘤大小正相关(r=0.159,P<0.05),并与性别及组织学分型具有相关性(P<0.05)。ALK、ROS1、RET融合均与组织学包含微乳头成分正相关(r=0.097、r=0.105、r=0.136,P<0.05)。ALK融合与组织学分型以及淋巴结转移的相关性具有统计学意义(P<0.05)。结论:非小细胞肺癌罕见驱动基因突变虽然发生率较低,但包含一种以上罕见突变的患者比例较高。这些驱动基因突变与临床病理特征的关系多种多样,大多与组织学分型相关。Objective:To analyze the characteristics of rare driven mutations in non-small cell lung cancer(NSCLC)and their correlation with clinicopathological features.Methods:A total of 630 patients with NSCLC were collected from Department of Pathology of China-Japan Friendship Hospital from November 2018 to December 2019.The driving genes were detected by Real-time PCR.The detection includes mutations of EGFR,KRAS,NRAS,BRAF,PIK3 CA and HER2 genes,and fusions of ALK,ROS1 and RET genes.Results:The overall mutation positive rate was 63.49%(400/630),the fusion positive rate was 6.35%(40/630),and the wild type cases accounted for 30.16%(190/630).The rare driving genes mutation accounted for 27.27%(120/440)of all driving genes.In 322 cases of EGFR mutations,9.63%(31/322)were rare mutation types.EGFR Exon20 insertion mutation and HER2 mutation were negatively correlated with patients’ age(P<0.05).Ras mutation was positively correlated with tumor size(P<0.05)and correlated with gender and histological type(P<0.05).ALK,ROS1 and RET fusions were positively correlated with micropapillary pattern(P<0.05).The correlation between ALK fusion and histological type,ALK fusion and lymph node metastasis were statistically significant(P<0.05).Conclusion:Although the mutation rate of rare driving mutations in NSCLC is low,the total number of patients with more than one rare mutation is not small.The relationship between those mutations and clinicopathological characteristics was varied.Most of them were associated with histological type.

关 键 词：肺肿瘤 驱动基因突变 实时定量PCR 

分 类 号：R734.2[医药卫生—肿瘤]