基因拷贝数异常在甲状腺癌诊断和预后判断中的应用进展  

Progress in the application of gene copy number variations in diagnosis and prognosis of thyroid cancer

作　　者：曹星月 武晓泓[1] Cao Xingyue;Wu Xiaohong(Department of Endocrinology,The First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]南京医科大学第一附属医院内分泌科,210029

出　　处：《国际内分泌代谢杂志》2019年第1期29-33,共5页International Journal of Endocrinology and Metabolism

摘　　要：拷贝数异常(CNVs)是广泛存在于人体基因组的一种结构变异现象。异常片段大小从几十个碱基(>50 bp)到数Mb范围不等,主要包括拷贝数的扩增、删除、缺失、插入、重组以及多位点的复杂变异。相关研究发现,12号染色体扩增现象仅存在于甲状腺腺瘤(FA),而22号染色体缺失常见于FA和滤泡型乳头状癌(FVPTC),且并未在良性结节中发现其缺失现象。更有学者根据CNVs的类型将甲状腺癌分为4大类,揭示不同类型CNVs对甲状腺癌预后的影响。Copy number variations (CNVs)is a structural variation widely existed in human genome.The size of the abnormal fragment ranges from dozens of bases (>50 bp)to several Mb,mainly including the amplification,deletion,loss,insertion,recombination and complex variation of multiple sites. Amplification of chromosome 12 was found only in thyroid adenomas(FA),whereas deletion of chromosome 22 was common in FA and follicular papillary carcinoma(FVPTC),and no deletion of chromosome 22 was found in benign nodules.According to the types of CNVs,thyroid carcinoma is divided into four categories, revealing the impact of different types of CNVs on the prognosis of thyroid carcinoma.

关 键 词：甲状腺癌 基因拷贝数异常 分子标志物 

分 类 号：R736.1[医药卫生—肿瘤]