二代测序在葡萄膜黑色素瘤发病机制研究中的应用进展  

Application of next-generation sequencing in the pathogenesis of uveal melanoma

作　　者：姚雪明 颜华[1] Yao Xueming;Yan Hua(Department of Ophthalmology,General Hospital of Tianjin Medical University,Tianjin 300052,China)

机构地区：[1]天津医科大学总医院眼科,天津300052

出　　处：《中华眼科杂志》2022年第11期970-974,共5页Chinese Journal of Ophthalmology

摘　　要：葡萄膜黑色素瘤作为成人最常见的眼内恶性肿瘤, 转移后治疗效果不佳。近年来, 二代测序技术在研究疾病遗传特征上得到越来越多的应用。本文从基因组学, 表观基因组和转录组角度出发, 概括了二代测序技术应用下葡萄膜黑色素瘤致病相关的基因组变异, 表观基因组调控机制变化和转录组水平上肿瘤免疫特征, 尤其从染色体拷贝数变异、基因突变和DNA甲基化水平改变等方面进行阐述。Uveal melanoma,as the most common intraocular malignant tumor in adults,has poor overall survival after metastasis.In recent years,next-generation sequencing technology has been increaingly applied in studying the genetic characteristics of diseases.From the perspectives of genome,epigenome,and transcriptome,this review summed up the genomics mutation,epigenomics regulation mechanism,and immune transcriptomic profiling of uveal melanoma in the context of next-generation sequencing technologies,especially chromosome copy number variation,gene mutation and DNA methylation.

关 键 词：葡萄膜肿瘤 黑色素瘤 高通量核苷酸序列分析 表观基因组学 DNA拷贝数变异 

分 类 号：R739.7[医药卫生—肿瘤]