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Higher risk of phaeochromocytoma/paraganglioma (Phaeo‐Pgl) in SDHD than SDHB carriers: an Australian cohort study
Author(s) -
Hong Alice,
Shanahan Mary,
Schenberg Tess,
Inder Warrick,
MacIsaac Richard,
James Paul,
Sachithanandan Nirupa
Publication year - 2019
Publication title -
internal medicine journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 1444-0903
DOI - 10.1111/imj.14250
Subject(s) - sdhb , sdhd , medicine , paraganglioma , metanephrines , cohort , pheochromocytoma , magnetic resonance imaging , penetrance , metanephrine , oncology , pathology , radiology , germline mutation , mutation , gene , genetics , biology , phenotype
Carriers of succinate dehydrogenase (SDHx) mutations are at risk of developing phaeochromocytomas, catecholamine secreting extra‐adrenal paragangliomas and non‐secretory head and neck paragangliomas and require lifelong surveillance. There is no current consensus on the optimal surveillance strategy. This study describes the outcomes of a cohort of 50 SDHx mutation carriers followed at a tertiary Australian hospital using a surveillance protocol involving annual clinical review with plasma/urine metanephrines and biennial magnetic resonance imaging from skull base to pelvis.