Progress in genetic research on metastatic pheochromocytoma and paraganglioma
10.3969/j.issn.1006-5725.2023.23.020
- VernacularTitle:转移性嗜铬细胞瘤和副神经节瘤遗传学研究进展
- Author:
Yuanjian LIAO
1
;
Jingjing YAO
;
Mingshun ZUO
;
Hongchuan CHEN
;
Te XU
;
Neng ZHANG
Author Information
1. 遵义医科大学附属医院泌尿外科(贵州遵义 563000)
- Keywords:
metastatic pheochromocytoma;
metastatic paraganglioma;
genetics;
genes
- From:
The Journal of Practical Medicine
2023;39(23):3137-3142
- CountryChina
- Language:Chinese
-
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.
