[1]马晓森,童安莉.嗜铬细胞瘤分子病因学研究进展[J].国际内分泌代谢杂志,2021,41(02):82-86.[doi:10.3760/cma.j.cn121383-20200630-06087]
 Ma Xiaosen,Tong Anli..Research progress on the molecular etiology of pheochromocytoma[J].International Journal of Endocrinology and Metabolism,2021,41(02):82-86.[doi:10.3760/cma.j.cn121383-20200630-06087]
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嗜铬细胞瘤分子病因学研究进展()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
41
期数:
2021年02期
页码:
82-86
栏目:
肾上腺疾病专题
出版日期:
2021-03-20

文章信息/Info

Title:
Research progress on the molecular etiology of pheochromocytoma
作者:
马晓森童安莉
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
Author(s):
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
关键词:
嗜铬细胞瘤 副神经节瘤 发病机制
Keywords:
Pheochromocytoma Paraganglioma Pathogenesis
DOI:
10.3760/cma.j.cn121383-20200630-06087
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。
Abstract:
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.

参考文献/References:

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备注/Memo

备注/Memo:
通信作者:童安莉,Email:tonganli@hotmail.com 基金项目: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)
更新日期/Last Update: 2021-03-20