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 technology， more and more susceptibility genes have been proved to be associated with MPPGL， making early identification 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.

Key words: metastatic pheochromocytoma, metastatic paraganglioma, genetics, genes