不同标本类型在非小细胞肺癌基因检测中的应用及意义

Application and significance of different specimen types in the genetic detection of non-small cell lung cancer

目的研究分析不同标本类型在非小细胞肺癌(NSCLC)患者的驱动基因检出率,并分析表皮生长因子受体(EGFR)、间变性淋巴瘤激酶(ALK)、C-ros原癌基因1-受体酪氨酸激酶(ROS1)、Kristen鼠肉瘤病毒原癌基因同源体(KRAS)、鼠类肉瘤滤过性毒菌致癌基因同源体B(BRAF)等驱动基因异常情况及与临床病理特征关系。方法收集2021年1月—2021年12月我院病理科明确诊断为NSCLC样本180例,包括手术切除标本25例,肺活检标本80例,恶性胸腔积液细胞蜡块标本29例,转移病灶标本46例,采用扩增阻滞突变系统(ARMS)法检测驱动基因突变状态。结果5种驱动基因的总突变率为53.33%(96/180),驱动基因突变可在不同标本类型中检出,不同标本间突变率比较差异无统计学意义(P>0.05)。EGFR基因突变率40.56%(73/180),性别及组织类型突变率比较差异有统计学意义(P<0.05),年龄类型突变率比较差异无统计学意义(P>0.05);KRAS基因突变率6.11%(11/180),其中性别类型突变率比较差异有统计学意义(P<0.05),年龄与组织类型突变率比较差异无统计学意义(P>0.05);ALK融合基因突变率4.44/%(8/180),年龄、性别及组织类型突变率比较差异无统计学意义(P>0.05);BRAF基因突变率1.11%(2/180),ROS1融合基因突变率1.11%(2/180)。结论不同标本类型均可检出驱动基因,增加了临床基因检测的取样途径。NSCLC患者EGFR基因突变率明显高于其他驱动基因,EGFR基因突变与患者性别及组织类型有差异,KRAS基因突变与患者性别有差异;ALK、ROS1、BRAF基因突变率较低,但指导NSCLC治疗有重要意义。多基因联合检测可一次获取更多驱动基因突变信息,能够更快、更全面地指导临床治疗。

Objective To study the driver gene detection rate of different sample types in patients with non-small cell lung cancer(NSCLC),the abnormal driver genes of epidermal growth factor receptor(EGFR),anergic lymphoma kinase(ALK),C-ros prooncogene1-receptor tyrosine kinase(ROS1),Kristen mouse sarcoma virus prooncogene homology(KRAS),murine sarcoma viral toxotoxin oncogene homology B(BRAF),and their clinicopathology characteristic relationship.Methods A total of 180 NSCLCs from 909th hospital from January 2021 to December 2021 were collected for driver genes testing including 25 surgical resection specimens,80 lung biopsy specimens,29 malignant pleural effusion cell wax block specimens and 46 metastatic lesion specimens.The specimens were tested for driver gene mutations using the amplification refractory mutation system(ARMS)method.Results The total mutation rate of the five driver genes was 53.33%(96/180),and the mutations of the driver genes could be detected in different specimen types,and the difference in mutation rate was not statistically significant(P>0.05).The mutation rate of EGFR gene was 40.56%(73/180),and the difference in gender and tissue type was statistically significant(P<0.05),and the difference in age mutation rate was not statistically significant(P>0.05).KRAS gene mutation rate was 6.11%(11/180),of which the difference between gender was statistically significant(P<0.05),and the difference between age and tissue type mutation rate was not statistically significant(P>0.05).ALK fusion gene mutation rate was 4.44/%(8/180),and the difference between age,gender and tissue type mutation rate was not statistically significant(P>0.05).ROS1 fusion gene mutation rate was 1.11%(2/180),and BRAF gene mutation was rate 1.11%(2/180).Conclusion Driver genes can be detected in different specimen types,increasing the sampling pathway for clinical genetic testing.The EGFR gene mutation rate was significantly higher in NSCLC patients than in other driver genes,EGFR gene mutations are different from patients′gender and pattern of organization.KRAS gene mutations are different from patients’gender.The mutation rate of ALK,ROS1 and BRAF genes is low,but it is of great significance to guide the treatment of NSCLC.Multigene combined testing can obtain more information about driver gene mutations at a time,which can guide clinical treatment faster and more comprehensively.