二代测序检测上行型与下行型鼻咽癌中高频突变基因的研究  

Research on the detection of high-frequency mutation genes in ascending and descending nasopharyngeal carcinoma by next-generation sequencing

作　　者：李佳星 曹辉[2] 张瑜[2] 李勇[2] 王姿 景楚滢 黄立敏[2] LI Jiaxing;CAO Hui;ZHANG Yu;LI Yong;WANG Zi;JING Chuying;HUANG Limin(Medical College of Guizhou University,Guiyang 550000,China;Department of Oncology,Guizhou Provincial People′s Hospital/Guizhou Cancer Center)

机构地区：[1]贵州大学医学院,贵阳550000 [2]贵州省人民医院/贵州省癌症中心

出　　处：《实用肿瘤学杂志》2021年第1期28-34,共7页Practical Oncology Journal

基　　金：国家自然科学基金(编号:81660451)。

摘　　要：目的本文利用二代测序(Next-generation sequencing,NGS)技术对上行型及下行型鼻咽癌基因突变特征进行分析,寻找两者间的差异,探讨高频突变基因与鼻咽癌侵袭及局部区域淋巴结转移的相关性。方法收集2014年1月—2018年12月于贵州省人民医院确诊的鼻咽癌患者的肿瘤组织样本40例(上行型及下行型鼻咽癌各20例),进行DNA提取,采用Illumina测序平台对400个肿瘤相关基因进行捕获测序,检测突变情况,测序结果结合相关临床资料进行分析。结果在40例鼻咽癌病理组织标本中,检测到ABCA13、CACNA1F、CELSR2、中心体蛋白170B(Centrosomal protein,CEP170B)基因在下行型鼻咽癌中突变高于上行型鼻咽癌;ABCC2、ALPK2、ASB15、ASRGL1、ATXN2L、BCL9L、C5orf42、CCDC88A、CEBPZ、CELSR3、CEP290、COL4A2、COL6A5、LGR5、LSR、SPEG基因在上行型鼻咽癌中突变高于下行型鼻咽癌。其中CEP170B在下行型鼻咽癌中突变率最高,其突变率为57%;上行型鼻咽癌组与下行型鼻咽癌组肿瘤突变负荷及肿瘤异质性差异均无统计学意义。结论CEP170B基因在下行型鼻咽癌组高频率突变,因下行型鼻咽癌易发生淋巴结广泛多处转移,结果提示CEP170B基因可能与鼻咽癌发生局部区域淋巴结转移密切相关,可能成为鼻咽癌临床治疗的潜在靶点。Objective In this paper,next-generation sequencing(NGS)technology was used to analyze the genetic mutation characteristics of ascending and descending nasopharyngeal carcinoma,to find the differences between them,and to explore the relationship between high-frequency mutation genes and nasopharyngeal carcinoma(NPC)invasion and regional lymph node metastasis.Methods Forty cases of NPC patients diagnosed(20 cases ascending and descending NPC a group)were collected in Guizhou Provincial People′s Hospital from January 2014 to December 2018.DNA extraction was performed using Illumina.The sequencing platform captured and sequenced 400 tumor-related genes for detection mutations.The sequencing results were combined with relevant clinical data for analysis.Results In 40 specimens of NPC histopathological tissues,ABCA13,CACNA1F,CELSR2,CEP170B genes were detected to be mutated in descending NPC;ABCC2,ALPK2,ASB15,ASRGL1 and other genes have higher mutations in ascending NPC than descending NPC.Among them,centrosome protein 170B(Centrosomal protein 170B,CEP170B)has the highest mutation rate in descending NPC,with a mutation rate of 57%.There was no statistically significant difference in tumor mutation burden and tumor heterogeneity between G1 and G2 groups.Conclusion The CEP170B gene has a high frequency of mutations in the descending NPC group.Because descending NPC is prone to extensive lymph node metastasis,the results suggest that this gene may be closely related to the local regional lymph node metastasis of NPC,and may become a clinical NPC Potential targets for treatment.

关 键 词：鼻咽癌 二代测序 CEP170B 基因突变 

分 类 号：R817.1[医药卫生—影像医学与核医学]