华南地区非小细胞肺癌患者肿瘤组织EGFR,ALK和ROS1基因突变分析  

Mutation Analysis of EGFR,ALK and ROS1 in Tumor Tissues of Patients with Non-Small Cell Lung Cancer in South of China

作　　者：黎谢梦丹 罗凯 吴顺芳 贺智敏 

机构地区：[1]广州医科大学附属肿瘤医院广州医科大学肿瘤研究所,广州510095

出　　处：《现代检验医学杂志》2017年第5期16-18,23,共4页Journal of Modern Laboratory Medicine

基　　金：广东省中医药局科研项目(No.20161179)

摘　　要：目的探讨华南地区非小细胞肺癌(NSCLC)患者肿瘤组织表皮生长因子受体(EGFR),变性淋巴瘤激酶(ALK)和C-ros原癌基因1酪氨酸激酶(ROS1)基因突变特点及其与临床特征的关系。方法收集2016年11月～2017年6月间华南地区76例NSCLC患者肿瘤组织及相应临床资料,利用ARMS法三基因突变联合检测试剂盒检测各肿瘤组织的EGFR,ALK,ROS1基因突变状态,并做各基因突变率与临床特征的相关性分析。结果在华南地区76例NSCLC患者中,EGFR基因突变率为55.3%(42/76),19 del和L858R突变为其主要突变类型,检出1例19del联合L858R共突变;ALK基因融合阳性率为17.1%(13/76),检出4例ALK基因融合联合EGFR基因突变;ROS1基因融合的阳性率为1.3%(1/76),未见ROS1基因联合EGFR基因或ALK基因共突变。与ROS1基因相比,EGFR和ALK基因突变率更高,差异具有统计学意义(χ~2=54.515,P=0.000;χ~2=11.329,P=0.001)。非吸烟NSCLC患者EGFR基因突变率高于吸烟患者,差异具有统计学意义(χ~2=4.578,P=0.032),而ALK与ROS1基因突变率的差异则不具有统计学意义(χ~2=0.000,均P值>0.05);不同年龄、性别和组织学分型的NSCLC患者其EGFR,ALK与ROS1基因突变率的差异不具有统计学意义(χ~2=0.000～2.219,均P值>0.05)。结论 EGFR,ALK和ROS1基因突变均可见于华南地区NSCLC患者,其中以EGFR和ALK基因突变率更高。Objective To investigate the characteristics of EGFR,ALK and ROS1 mutations in patients with non small cell lung cancer （NSCLC） in South of China and its relationship with clinical features. Methods The tumor tissues and corre- sponding clinical data of 76 NSCLC patients in South of China from November 2016 to June 2017 were collected. The muta- tions of EGFR, ALK and ROS1 were detected by ARMS assay with Joint detection kit. Meanwhile, the correlation between gene mutation rate and clinical features was analyzed. Results The mutation rate of EGFR was 67.3~ （42/76） in 76 pa tients with NSCLC in South of China, 19 del and L858R mutations were the main mutation types. There was a co-mutation including 19 del and L858R. The positive rate of ALK gene fusion was 17.1% （13/76）,and 4 cases of ALK gene fusion combined with EGFR mutation were detected. The positive rate of ROS1 gene fusion was 1.3% （1/76） ,and there was no co mutation with other genes. Compared with ROS1 ,EGFR and ALK mutation rate was higher, the difference was statistically significant （X2 =54. 515,P=0. 000;Х^2 =11. 329,P=0. 001）. The mutation rate of EGFR in non-smoking NSCLC pa tients was significantly higher than that in smokers （Х^2= 4. 578, P= 0. 032）, while the mutation rate of ALK and ROS1 was not statistically significant （Х^2= 0. 000, P〈0.05）. There was no statistically significant difference in EGFR, ALK and ROS1 gene mutation rates among NSCLC patients of different age,sex and histology （Z2 0. 000-2. 219 ,P〉0.05）. Conclusion EGFR,ALK and ROS1 gene mutations can be seen in patients with NSCLC in South China,in which EGFR and ALK gene mutation rate is higher.

关 键 词：非细胞肺癌 表皮生长因子受体 变性淋巴瘤激酶 C—ros原癌基因1酪氨酸激酶 联合检测 

分 类 号：R734.2[医药卫生—肿瘤] R730.43[医药卫生—临床医学]