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

Familial pheochromocytomas and paragangliomas associated with mutations of the succinate dehydrogenase genes. Expert Rev Endocrinol Metab. 2007 May;2(3):399-406 Authors: Timmers HJ, Pacak K 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. PMID: 30743806 [PubMed]
Source: Expert Review of Endocrinology and Metabolism - Category: Endocrinology Tags: Expert Rev Endocrinol Metab Source Type: research