非小细胞肺癌患者肿瘤组织中驱动基因的分子病理检测分析及其临床意义  

Molecular pathological detection and analysis of the driver genes in tumor tissues of the patients with non-small cell lung cancer and its clinical significance

作　　者：左安欣 张晓妹[1] 仇玮[1] ZUO Anxin;ZHANG Xiaomei;QIU Wei(Department of Pathology,Nanjing Jiangning Hospital,Nanjing,Jiangsu 211100,China)

机构地区：[1]南京市江宁医院病理科,江苏南京211100

出　　处：《现代医药卫生》2022年第7期1139-1143,共5页Journal of Modern Medicine & Health

摘　　要：目的 探讨非小细胞肺癌中EGFR、ALK、ROS1、RET、KRAS、NRAS、PIK3CA、BRAF、HER-2和MET 10个基因的突变情况,分析其与临床病理的关系,探索10种基因突变联合检测的临床应用价值。方法收集2020年1月至2021年7月在该院确诊为非小细胞肺癌患者83例,提取DNA和RNA后,采用探针扩增阻碍突变系统PCR(ARMS-PCR)法对标本进行基因突变检测。结果 非小细胞肺癌10种基因联合检测的总突变频率为74.70%(62/83),各基因突变分布为EGFR 49.40%(41/83)、KRAS 13.25%(11/83)、ALK融合4.82%(4/83)、ROS1融合4.82%(4/83)、HER-2 3.61%(3/83)、MET 14号外显子跳跃2.41%(2/83)、PIK3CA 1.20%(1/83),RET融合、NRAS及BRAF均未检测出。肺腺癌EGFR突变频率高于肺鳞癌;女性患者EGFR突变频率高于男性,男性患者KRAS突变频率高于女性;年龄≥60岁的患者EGFR和KRAS突变频率高于60岁以下的患者。结论 在10种基因突变中,EGFR突变、KRAS突变与患者性别、年龄及组织学类型密切相关。10种基因联合检测可一次获得更多基因突变信息,对于临床取材量少的标本意义重大,能够为分子靶向用药提供更加全面的指导信息。Objective To investigate the mutations of EGFR,ALK,ROS1,RET,KRAS,NRAS,PIK3CA,BRAF,HER-2 and MET genes in non-small cell lung cancer,to analyze the relationship between them and clinical pathology,and to explore the clinical application value of combined detection of the ten gene mutations.Methods A total of 83 patients with non-small cell lung cancer diagnosed in the hospital from January 2020 to July 2021 were collected.After DNA and RNA extraction,the ARMS-PCR method was used to test the genetic mutation of the specimens.Results The total mutation frequency of the ten-gene combined detection of non-small cell lung cancer was 74.70%(62/83),and the mutation distribution of each gene:49.40%(41/83)for EGFR,13.25%(11/83)for KRAS,4.82%(4/83)for ALK fusion,4.82%(4/83)for ROS1 fusion,3.61%(3/83)for HER-2,2.40%(2/83)for MET exon 14 jumps,and 1.20%(1/83)for PIK3CA.In addition,RET fusion,NRAS and BRAF were not detected.The frequency of EGFR mutation was higher in lung adenocarcinoma than in squamous lung cancer.The frequency of EGFR mutation was higher in female patients than in males,and the frequency of KRAS mutation was higher in male patients than in females.The frequency of EGFR and KRAS mutations were higher in patients aged older than 60 years old than in those younger than 60 years old.Conclusion Among the ten mutations,EGFR and KRAS mutations are strongly associated with patient gender,age and histological type.Combined testing of the ten genes can provide more information on the mutations at one time.The combination of the ten genes can provide more information on mutations at one time,which is of great significance for specimens with low clinical volume,and can provide more comprehensive information for molecular targeting of drugs.

关 键 词：非小细胞肺癌 驱动基因 双突变 ARMS 

分 类 号：R734.2[医药卫生—肿瘤]