二代测序技术检测鼻咽癌相关基因突变与临床病理特征关系分析  

Detection of gene mutations related to nasopharyngeal carcinoma and analysis of clinicopathological characteristicsby next-generation sequencing technology

作　　者：陈彦竹 何倩 马宏志 刘林 张琳 韩亚骞 刘峰 CHEN Yanzhu;HE Qian;MA Hongzhi;LIU Lin;ZHANG Lin;HAN Yaqian;LIU Feng(Second Department of Head and Neck Radiotherapy,the Affiliated Cancer Hospital of Xiangya School of Medicine,Central South University(Hunan Cancer Hospital),Hunan Changsha 410013,China)

机构地区：[1]中南大学湘雅医学院附属肿瘤医院(湖南省肿瘤医院)头颈放疗二科,湖南长沙410013

出　　处：《现代肿瘤医学》2021年第8期1314-1319,共6页Journal of Modern Oncology

基　　金：中国癌症基金会北京希望马拉松基金(编号:LC2016W05);湖南省自然科学基金(编号:2016JJ6088);湖南省卫生和计划生育委员会项目(编号:B2016048);长沙市科技计划项目(编号:kq1701042)。

摘　　要：目的:以二代测序(NGS)为基础分析鼻咽癌相关基因突变及突变功能区域,探讨突变基因与临床特征之间的关系及临床应用价值。方法:收集2018年2月-2018年11月中南大学湘雅医学院附属肿瘤医院/湖南省肿瘤医院头颈放疗二科28例初治鼻咽癌患者,采用基因测序平台Illumina NextSeqCN500进行全基因测序,描述基因检测结果,统计分析高频突变基因与临床病理特征之间的关系。结果:本研究共检测到93个基因及115个突变功能区域,因部分基因突变频率较低未纳入统计,纳入统计共20个突变基因及14个突变功能区域,其中泛素羧基末端水解酶1(BAP1)和肿瘤抑制因子(CYLD)基因的突变频率均为9.8%(5/51),肿瘤蛋白p53(TP53)基因突变频率为7.8%(4/51)。结论:Illumina NextSeqCN500测序平台可作为鼻咽癌多基因突变检测手段,BAP1、CYLD及TP53在鼻咽癌中突变频率较高,对深入研究鼻咽癌发病机制及靶向药物治疗方面具有一定的指导意义。Objective:To analyze the mutations and functional regions of nasopharyngeal carcinoma-related genes based on NGS,and explore the relationship between mutant genes and clinical features and clinical application value.Methods:From February 2018 to November 2018,28 patients with nasopharyngeal carcinoma who were newly treated in the second department of head and neck radiotherapy at the Affiliated Cancer Hospital of Xiangya School of Medicine/Hunan Tumor Hospital were collected,and the genome sequencing platform Illumina NextSeqCN500 sequencing platform was used for whole gene sequencing.Describe the results of genetic testing,and statistically analyze the relationship between high-frequency mutation genes and clinicopathological characteristics.Results:A total of 93 genes and 115 functional regions with mutations were detected in this study.Due to the low mutation frequency of some genes,they were not included in the statistics.A total of 20 mutant genes and 14 functional regions with mutations were included in the statistics.Among them,the tumor suppressor BRCA1-associated protein 1(BAP1)and Cylindromatosis lysine 63 deubiquitinase(CYLD)gene mutation frequency was 9.8%(5/51).Tumor protein p53(TP53)gene mutation frequency was 7.8%(4/51).Conclusion:The Illumina NextSeqCN500 sequencing platform can be used as a detection method for multi-gene mutations in nasopharyngeal carcinoma.BAP1,CYLD and TP53 have a high mutation frequency in nasopharyngeal carcinoma,which has certain guiding significance for in-depth study of the pathogenesis of nasopharyngeal carcinoma and targeted drug therapy.

关 键 词：鼻咽癌 二代测序 BAP1 CYLD TP53 

分 类 号：R739.63[医药卫生—肿瘤]