多发性内分泌腺瘤病1型相关原发性甲状旁腺功能亢进症的表观遗传学  

Epigenetic mechanism of multiple endocrine neoplasia type 1 related primary hyperparathyroidism

作　　者：杨奕 王鸥 YANG Yi;WANG Ou(Department of Endocrinology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Key Laboratory of Endocrinology of National Health Commission of the People's Republic of China,Beijing 100730,China)

机构地区：[1]中国医学科学院,北京协和医学院,北京协和医院内分泌科,国家卫生和健康委员会内分泌重点实验室,北京100730

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2021年第2期186-191,共6页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：中国医学科学院医学与健康创新工程:内分泌肿瘤基础与临床研究(CAMS-I2M)2017-I2M-1-001。

摘　　要：多发性内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN-1)是一种常染色体显性遗传性疾病,主要临床表现为原发性甲状旁腺功能亢进症、垂体前叶肿瘤或增生、胃肠胰腺神经内分泌肿瘤等。表观遗传学水平的变化已被证实在多种肿瘤的发生发展中起重要作用,而MEN-1相关内分泌肿瘤的表观遗传学机制研究尚不多见。本文就表观遗传学参与MEN-1相关甲状旁腺功能亢进症发生、发展的机制研究进展进行综述。Multiple endocrine neoplasia type 1(MEN-1)is an autosomal dominant genetic disorder,whose main clinical manifestations are primary hyperparathyroidism,anterior pituitary tumor or hyperplasia,gastrointestinal and pancreatic neuroendocrine tumor.Epigenetic alterations have been proved to play important roles in the development of a wide range of tumors,while epigenetic mechanisms of MEN-1-related endocrine tumors have not been well understood.This article aims to review the epigenetic mechanism in the pathogenesis and development of MEN-1 related hyperparathyroidism.

关 键 词：多发性内分泌腺瘤病1型 原发性甲状旁腺功能亢进症 表观遗传学 

分 类 号：R582[医药卫生—内分泌]