嗜铬细胞瘤/副神经节瘤的分子遗传学机制研究进展  

Advance in molecular genetic mechanisms of pheochromocytoma and paraganglioma

作　　者：李名浩 刘培华[1] 于安泽 刘龙飞[1] 

机构地区：[1]中南大学湘雅医院泌尿外科,湖南长沙410008

出　　处：《中国医学工程》2017年第1期16-20,共5页China Medical Engineering

基　　金：国家自然科学基金(81400773);湖南省自然科学基金(14JJ6002)

摘　　要：嗜铬细胞瘤/副神经节瘤(PCC/PGL)是一类少见的神经内分泌肿瘤,其在人类肿瘤中的遗传可能性最高,最新研究表明60%的PCC/PGL患者与遗传因素有关。PCC/PGL相关的遗传基因包括RET、VHL、NF1、SDHA、SDHB、SDHC、SDHD和SDHAF2等。近年来,一些新的致病基因被陆续发现,使得与其相关的可疑基因多达28种。目前PCC/PGL相关的分子遗传学机制研究取得了重要进展,为理解PCC/PGL的发病机制,寻找新的治疗靶点提供了新的思路,本文系统综述了PCC/PGL的分子遗传学机制。Pheochromocytoma and paraganglioma（PCC/PGL） are a group of neuroendocrine tumors which are rarely seen. They have a very strong probability associated to heredity in human tumors. According to recent researches, 60% of PCC/PGL patients are related to heredity. PCC/PGL related genes include RET, VHL, NF1, SDHA, SDHB, SDHC, SDHD and SDHAF2, etc. A series of new suspicious genes have been discovered gradually in recent years, which made the number of suspicious genes increased to 28. At present, the PCC/PGL related molecular genetic mechanisms have gained important progress, which provide new ideas for comprehending the pathogenesis of PCC/PGL and fi nding out new therapeutic targets. The molecular genetic mechanisms of PCC/PGL are reviewed in this paper.

关 键 词：嗜铬细胞瘤 副神经节瘤 治疗靶点 分子遗传学机制 

分 类 号：Q341[生物学—遗传学]