收稿日期: 2023-07-24
网络出版日期: 2024-01-08
基金资助
国家自然科学基金项目(81860524)
Progress in genetic research on metastatic pheochromocytoma and paraganglioma
Received date: 2023-07-24
Online published: 2024-01-08
转移性嗜铬细胞瘤和副神经节瘤（MPPGL）是一种罕见的神经内分泌肿瘤，遗传因素在其发病中具有重要作用。近年来，随着基因检测技术的不断进步，越来越多的易感基因被证实与MPPGL相关，使得对MPPGL的早期识别成为可能。最近的研究表明，与MPPGL发病相关的基因包括SDHA、SDHB、SDHC、SDHD、SDHAF2、FH、MDH2、VHL、IDH1、PDH1/2、SLC25A11、GOT2、DLST、CSDE1、MAML3、H3F3A、MERTK、PCDHGC3和KIF1B，其中SDHA、SDHB、SDHC、SDHD、SDHAF2是常见致病基因。潜在的基因突变会影响 MPPGL 的临床表现，如恶性潜能和遗传预测等，这有助于更好地了解临床病程并进行相应的治疗。嗜铬细胞瘤和副神经节瘤的基因检测可及早发现遗传综合征，并有助于对高危患者进行密切随访。本文就对MPPGL近年来发现的易感基因研究进展进行综述，以期为进一步开展相关研究提供一定的理论依据。
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 . DOI: 10.3969/j.issn.1006-5725.2023.23.020
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
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