Genetics of phaeochromocytoma

Research output: Contribution to journalReview article



Recent advances in determining the molecular basis for phaeochromocytoma susceptibility have revealed a much larger inherited contribution to the pathogenesis of phaeochromocytoma than had been generally recognized. The identification of individuals with phaeochromocytoma susceptibility disorders (e.g. von Hippel-Lindau disease, succinate dehydrogenase subunit mutations, multiple endocrine neoplasia type 2 and neurofibromatosis type 1) is important because of the opportunity to reduce morbidity and mortality from phaeochromocytoma and other relevant tumours in affected individuals and their at-risk relatives. Recent studies have also provided clues to the molecular pathogenesis of phaeochromocytoma development in familial cases and suggest that this differs from that seen in sporadic non-inherited cases.


Original languageEnglish
Pages (from-to)141-151
Number of pages11
JournalBritish Medical Bulletin
Publication statusPublished - 1 Jun 2006


  • genetics, inherited, phaechromocytoma