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Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

8 Dec 2018

Abstract excerpt

Pheochromocytoma and paraganglioma (PPGL) are rare tumours and at least 30% are part of hereditary syndromes. Approximately 20% of hereditary PPGL are caused by pathogenic germ line variants in genes of the succinate dehydrogenase complex (SDHx), TMEM127 or MAX. Herein we present guidelines regarding genetic testing of family members and their surveillance based on a thorough literature review. All cases of PPGL...

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PMID: 30536464
DOI: 10.1111/joim.12869

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