Familial pheochromocytomas and paragangliomas associated with mutations of the succinate dehydrogenase genes

Abstract

Pheochromocytomas and other sympathetic paragangliomas are rare tumors of the adrenal gland or extra-adrenal chromaffin tissue. Mutations of the genes encoding three subunits of the mitochondrial enzyme succinate dehydrogenase give rise to hereditary paraganglioma. We will review the distinct clinical phenotypes of familial paraganglioma syndromes associated with mutations in genes encoding for three different subunits of succinate dehydrogenase. The current insights in optimal strategies for biochemical testing, tumor localization and therapy of paraganglioma will be discussed. Furthermore, we provide recommendations regarding genetic testing and tumor screening among relatives of patients with succinate dehydrogenase-related paraganglioma.

Keywords::

• paraganglioma
• pheochromocytoma
• SDHB
• SDHC
• SDHD
• succinate dehydrogenase

Acknowledgements

This research was supported by the Intramural Research Program of the NICHD/NIH.

Disclosure

The authors have nothing to disclose.