实用医学杂志2023，Vol.39Issue(23)：3137-3142,6.DOI:10.3969/j.issn.1006-5725.2023.23.020
转移性嗜铬细胞瘤和副神经节瘤遗传学研究进展
Progress in genetic research on metastatic pheochromocytoma and paraganglioma
摘要
Abstract
Metastatic pheochromocytoma and paraganglioma(MPPGL)is a rare neuroendocrine tumour in which genetic factors play an important role.In recent years,with the continuous progress of genetic testing technol-ogy,more and more susceptibility genes have been proved to be associated with MPPGL,making early identifica-tion of MPPGL possible.Recent studies have shown that genes associated with the development of MPPGL include SDHA,SDHB,SDHC,SDHD,SDHAF2,FH,MDH2,VHL,IDH1,PDH1/2,SLC25A11,GOT2,DLST,CSDE1,MAML3,H3F3A,MERTK,PCDHGC3,and KIF1B,with SDHA,SDHB,SDHC,SDHD,and SDHAF2 being the common pathogenic genes.Potential mutations affect the clinical manifestations of MPPGL,such as malignant potential and genetic prediction,which can help to better understand the clinical course and treat accordingly.Genetic testing for pheochromocytomas and paragangliomas allows for early detection of genetic syndromes and facilitates close follow-up of high-risk patients.This article provides a review of the progress of research on susceptibility genes identified in MPPGL in recent years,with a view to providing a certain theoretical basis for further related research.关键词
转移性嗜铬细胞瘤/转移性副神经节瘤/遗传学/基因Key words
metastatic pheochromocytoma/metastatic paraganglioma/genetics/genes分类
医药卫生引用本文复制引用
廖远键,姚菁菁,左明顺,陈洪川,徐特,张能..转移性嗜铬细胞瘤和副神经节瘤遗传学研究进展[J].实用医学杂志,2023,39(23):3137-3142,6.基金项目
国家自然科学基金项目(编号:81860524) （编号:81860524）
