嗜铬细胞瘤分子病因学研究进展  

Research progress on the molecular etiology of pheochromocytoma

作　　者：马晓森 童安莉 Ma Xiaosen;Tong Anli(Department of Endocrinology,Key Laboratory of Endocrinology,National Health Commission of the People's Republic of China,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,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,国家卫生健康委员会内分泌重点实验室,100730

出　　处：《国际内分泌代谢杂志》2021年第2期82-86,共5页International Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金(81770427,82070822);中国医学科学院医学与健康科技创新工程项目(2017-12M-1-001)。

摘　　要：嗜铬细胞瘤/副神经节瘤(pheochromocytoma/paraganglioma,PPGL)是一种罕见的神经内分泌肿瘤,约40%的PPGL具有家族遗传性,其发病与已知致病基因的胚系突变相关。此外,肿瘤的体细胞基因突变、拷贝数变异、甲基化程度和非编码RNA也参与PPGL的发生。全面和深入了解PPGL的发病机制,将为今后寻找新的治疗靶点提供思路。文章总结了近几年在PPGL的发病机制方面取得的新进展。Pheochromocytoma/paraganglioma(PPGL)are rare neuroendocrine tumors.About 40%of PPGL is hereditary in the family.The pathogenesis of PPGL is related to germline mutations of known pathogenic genes.Besides,somatic mutations,copy number variations,methylation,and non-coding RNA have also participated in the development of PPGL.A comprehensive and in-depth understanding of the pathogenesis of PPGL benefits new targeted therapy in the future.This review summarizes the recent advances in the pathogenesis of PPGL.

关 键 词：嗜铬细胞瘤 副神经节瘤 发病机制 

分 类 号：R736.6[医药卫生—肿瘤]