摘要
睾丸生殖细胞瘤(TGCT)是最常见的睾丸恶性肿瘤,发病率逐年升高。然而,睾丸肿瘤的发病原因及机制尚未明确,新兴的第2代测序技术(NGS)已成为TGCT发病机制研究的主流手段。本文将对多年来TGCT基因组学研究进行总结,以便从基因层面上揭示该肿瘤的发病机制。总结发现基因表达差异、基因突变、易感基因主导的信号通路及性染色体上相关基因的改变在TGCT发生、发展过程中起到重要作用。睾丸肿瘤的基因组学研究意义重大,找出关键致病基因,为从基因水平上早期诊断筛查及后续的靶向治疗提供理论基础。
Testicular germ cell tumor （TGCT） is a most common testicular malignancy with an increasing incidence, and its pathogenesis and mechanisms are not yet clear. The next generation sequencing has become the main tool to uncover the underlying mechanisms of TGCT. The differential gene expressions, gene mutation, predisposing gene-dominated signaling pathways, and changes of the relevant genes in the sex chromosome are largely involved in the occurrence and development of TGCT. Studies on the genomics of TGCT contribute a lot to identifying the pivotal pathogenic genes and paving a theoretical ground for the early screening and targeted therapy of TGCT. This paper summarizes the advances in the studies of the genomics of TGCT so as to reveal the mechanisms of the disease at the genetic level.
出处
《中华男科学杂志》
CAS
CSCD
北大核心
2015年第4期363-370,共8页
National Journal of Andrology
基金
深圳基础研究项目(JCYJ20130401114928183
JCYJ20130401114715714)
深圳市技术开发项目
未来产业项目(CXZZ20140826163906370)
