贵州黔北地区922例非小细胞肺癌EGFR、ALK、ROS-1基因突变状态及其临床病理特征分析  

Analysis of the mutation status of EGFR,ALKand ROS-1 genes and their clinicopathological characteristics in 922 cases of non-small cell lung cancer in northern Guizhou province

作　　者：刘光峨 杨玲 李佩洁 罗培 李骄阳 马虎 LIU Guang-e;YANG Ling;LI Pei-jie;LUO Pei;LI Jiao-yang;MA Hu(Department of Oncology,Second Affiliated Hospital of Zunyi Medical University,Zunyi 563000,P.R.China)

机构地区：[1]遵义医科大学第二附属医院肿瘤科,贵州遵义563000

出　　处：《中华肿瘤防治杂志》2020年第21期1691-1697,共7页Chinese Journal of Cancer Prevention and Treatment

基　　金：贵州省科技厅攻关项目[黔教研合GZZ字(2016)06]。

摘　　要：目的本研究旨在探讨贵州黔北地区非小细胞肺癌(non-small cell lung cancer,NSCLC)常见的3种驱动基因突变情况及其临床病理特征。方法选取2016-01-01-2019-06-30遵义医科大学附属医院就诊的922例NSCLC患者的临床资料。采用扩增阻滞突变系统(amplification refractory mutation system,ARMS)法检测表皮生长因子受体(epidermic growth factor receptor,EGFR)、间变性淋巴瘤激酶(anaplastic lymphoma kinase,ALK)及肉瘤致癌因子-受体酪氨酸激酶(c-ros oncogene 1,receptor tyrosine kinase,ROS-1)融合基因等驱动基因突变类型。统计突变率并分析其与临床病理特征的关系,率的比较使用χ^2检验,理论频数<5的采用Fisher确切概率法计算,以P<0.05为差异有统计学意义。结果所有NSCLC患者中EGFR突变率为42.4%(391/922),易发生在女性(χ^2=77.52,P<0.01)、腺癌(χ^2=136.75,P<0.01)、未吸烟(χ^2=91.91,P<0.01)、未饮酒(χ^2=42.42,P<0.01)患者。ALK基因突变率为7%(65/922),易发生在女性(χ^2=5.85,P<0.05)、年龄≤61岁(χ^2=15.24,P<0.01)、未吸烟(χ^2=14.63,P<0.01)、腺癌患者(χ^2=13.70,P<0.01)。ROS-1基因突变率为1.2%(11/922),11例突变阳性患者中,其中10例为腺癌患者,1例为鳞癌患者。2例EGFR及ALK共突变患者。73例少数民族患者中,EGFR突变率为46.6%(34/73)。EGFR检测标本中,手术标本阳性率为56.59%(73/129)较其他标本阳性率高;EGFR基因阳性率在经皮肺穿组织标本及手术标本、恶性胸腔积液标本、胸膜活检标本和血液标本之间差异无统计学意义。ALK基因突变阳性率在胸膜活检标本为21.74%(10/46),在恶性胸腔积液标本中为9.1%(3/33),较其他类型标本阳性率高;ROS-1基因在转移部位穿刺活检标本阳性率为4.55%(3/66)及恶性胸腔积液标本中阳性率为3.0%(1/33)。结论黔北地区NSCLC患者EGFR突变率明显高于ALK和ROS-1。EGFR易发生在女性、未吸烟、未饮酒、腺癌患者;ALK易发生在女性、腺癌、未吸烟、年龄≤61�OBJECTIVE To investigate the three driving gene mutations of non-small cell lung cancer(NSCLC)in the northern part of Guizhou province and its relationship with clinical pathology.METHODS Clinical data of 922 patients with NSCLC admitted to Affiliated Hospital of Zunyi Medical University from January 1,2016 to June 30,2019 were collected.The patients were tested with the amplification blocking mutation system(ARMS)method of Epidermal growth factor receptor(EGFR),metamorphosis lymphoma kinase(ALK)and sarcoma carcinogen-receptor tyrosine kinase(ROS-1)fusion gene and the relationship between the mutation rate and clinicopathological characteristics was analyzed to find the characteristics of predicting EGFR,ALKand ROS-1 mutations,the rate of comparison using the chi square test,for the theoretical frequency of 5 using Fisher’s exact probability method,the difference with P<0.05 was statistically significant,providing reference for clinical prediction of mutation types and targeted therapy.RESULTS There were 391 EGFR mutations in 922 NSCLC patients,the mutation rate was 42.4%(391/922),which were prone to occur in female(χ^2=77.52,P<0.01),adenocarcinoma(χ^2=136.75,P<0.01),non-smoking(χ^2=91.91,P<0.01),non-drinking(χ^2=42.42,P<0.01).The mutation rate of ALKgene was 7%(65/922),which was prone to occur in female(χ^2=5.85,P<0.05),age less than 61 years old(χ^2=15.24,P<0.01),non-smoking(χ^2=14.63,P<0.01)and adenocarcinoma patients(χ^2=13.70,P<0.01).The mutation rate of the ROS-1 gene was 1.2%(11/922),and of the 11 patients who were positive from the mutation,10 were adenocarcinoma patients and 1 was scaly cancer.Two patients with EGFRand ALKco-mutations were observed(2/922).Among the 73 minority patients,the number of EGFR mutations was 34,with a mutation rate of 46.6%(34/73),2 patients had ALK mutations,and no patients had ROS-1 mutations.Among the EGFRspecimens,the positive rate of surgical specimens was56.59%(73/129).There was no significant difference between percutaneous lung biopsy and operative specimens,m

关 键 词：非小细胞肺癌 表皮生长因子受体 间变性淋巴瘤激酶 肉瘤致癌因子-受体酪氨酸激酶 

分 类 号：R734.2[医药卫生—肿瘤]