嗜铬细胞瘤和副神经节瘤的分子遗传学特点  

Molecular genetic characteristics of pheochromocytoma and paraganglioma

作　　者：赵琳[1] 周怡[1] 刘欣畅 孟旭[1] 周宪梁[1] Zhao Lin;Zhou Yi;Liu Xinchang;Meng Xu;Zhou Xianliang(Department of Cardiology,Fuwai Hospital,National Center for Cardiovascular Disease,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100037,China)

机构地区：[1]中国医学科学院,北京协和医学院,国家心血管病中心,阜外医院心内科,北京100037

出　　处：《国际遗传学杂志》2022年第5期368-375,共8页International Journal of Genetics

基　　金：国家重点研究发展计划(2016YFC1300100)。

摘　　要：嗜铬细胞瘤和副神经节瘤(pheochromocytomas and paragangliomas,PPGLs)是一类罕见的神经内分泌肿瘤,具有很强的遗传背景。患者的症状与过量儿茶酚胺释放相关。近年来,相关学者在PPGLs的遗传、代谢、免疫等潜在发病机制方面取得诸多进展,为其诊断和治疗手段的发展提供了理论基础。随着越来越多的PPGLs致病基因被发现,人们对PPGLs患者的治疗、预后及随访有了新的认识。现本文就PPGLs的分子遗传学特点进行综述。Pheochromocytomas and paragangliomas(PPGLs)are rare neuroendocrine tumors with a strong genetic background.The symptoms of patients are mostly related to excessive release of catecholamines.In recent years,related scholars have made a lot of progress in the potential pathogenesis of PPGLs such as heredity,metabolism,and immunity,which provides a theoretical basis for the further diagnosis and treatment of PPGLs.With the discovery of pathogenic genes of PPGLs,people have a new understanding of the treatments,prognosis and follow-up of PPGLs.This article reviews the molecular genetics of PPGLs.

关 键 词：嗜铬细胞瘤 副神经节瘤 分子遗传学 

分 类 号：R739.4[医药卫生—肿瘤]