摘要
目的探讨云南地区非小细胞肺癌(NSCLC)患者表皮生长因子受体(epidermic growth factor receptor,EGFR)、间变性淋巴瘤激酶(anaplastic lymphoma kinase,ALK)和C-ros原癌基因1酪氨酸激酶(C-ros oncogene 1-receptor tyrosine kinase,ROS1)驱动基因突变特点及其与临床病理特征的关系。方法收集昆明医科大学第一附属医院2016年7月至2019年7月212例NSCLC的肿瘤组织和临床病理资料,采用扩增阻滞突变系统(amplification refractory mutation system,ARMS)检测EGFR、ALK、ROS1三基因突变状态,统计分析其突变率及与临床病理特征的关系。结果云南地区212例NSCLC中EGFR基因突变率50.9%(108/212),以19-del和21号外显子L858R位点突变为主型(76.0%),多见于女性、无吸烟史及腺癌患者(P<0.05),与年龄大小无关(P>0.05),其中宣威地区发现G719X与S768I位点少见双突变(12.0%),可能与民族、遗传背景、环境等有相关性,有待进一步跟踪调查;ALK融合基因突变率为4.70%(10/212),ROS1融合基因突变率为1.89%(4/212),两基因突变均与患者性别、年龄、吸烟史及组织学类型无关(P>0.05)。结论云南地区NSCLC患者均可发生EGFR、ALK和ROS1基因突变,其中以EGFR基因突变率最高,ALK基因突变次之,ROS1基因突变最低;EGFR突变多见于女性、无吸烟史及腺癌患者,以19-del和21号外显子L858R位点突变为主型,宣威地区发现G719X与S768I位点少见双突变,有待进一步跟踪研究;ALK、ROS1融合基因突变与患者性别、年龄、吸烟史及组织学类型均无相关性。
Objective To investigate the characteristics of epidermic growth factor receptor(EGFR),anaplastic lymphoma kinase(ALK)and C-ros oncogene 1-receptor tyrosine kinase(ROS1)mutations in patients with non-small cell lung cancer(NSCLC)in Yunnan and its relationship with clinical features.Methods The tumor tissues and corresponding clinical data of 212 NSCLC patients in Yunnan from July 2016 to July 2019 were collected.The mutations of EGFR,ALK and ROS1 were detected by PCR-Amplification Refractory Mutation System(ARMS)and the correlation between gene mutation rate and clinical features of NSCLC were analyzed.Results The mutation rate of EGFR was 50.9%(108/212)in 212 patients with NSCLC in Yunnan.19-del and Exon21 L858R mutations were the main mutation types(76.0%),frequency in female,non-smoking and adenocarcinoma patients(P<0.05).There was no statistically significant difference in age(P>0.05).Meanwhile,a rare double mutations of G719X and S768I were found in Xuanwei region(12.0%),which may be related to the nationality,genetic background and environment and so on,and which needs further investigation;The positive rate of ALK gene fusion was 4.70%(10/212).The positive rate of ROS1 gene fusion was 1.89%(4/212).Both mutations were no correlation with the patient gender,age,smoking history and histological type(P>0.05).Conclusion EGFR,ALK and ROS1 gene mutations can occur in all NSCLC patients in Yunnan.The mutation rate of EGFR is the highest,ALK is the second,and ROS1 is the lowest.The mutation of EGFR is frequency detected in female,non-smoking and adenocarcinoma patients.19-del and Exon21 L858R mutations are the main mutation types.A rare double mutations of G719X and S768I have been found in Xuanwei region,which may be related to the nationality,genetic background and environment and so on,and which needs further investigation.ALK and ROS1 gene mutations do not correlate with the patients’gender,age,smoking history and histological type.
作者
王娟
苏国苗
潘国庆
边莉
杨哲
曾定涛
WANG Juan;SU Guo-miao;PAN Guo-qing;BIAN Li;YANG Zhe;ZENG Ding-tao(Dept.of Laboratory,The 3rd People's Hospital of Yunnan Province,Kunming Yunnan 650011;Dept.of Pathology,The 1st Affiliated Hospital of Kunming Medical University,Kunming Yunnan 650032,China)
出处
《昆明医科大学学报》
CAS
2020年第9期1-6,共6页
Journal of Kunming Medical University
基金
国家自然科学基金资助项目(81660135
81660413)
云南省教育厅科学研究基金资助项目(2019J1241)。
