Endocrine Abstracts (2007) 13 S53

Familial phaeochromocytoma syndromes

Eamonn Maher


University of Birmingham, Birmingham, United Kingdom.


Recent advances in determining the molecular basis for phaeochromocytoma susceptibility have suggested a much larger inherited contribution to the pathogenesisof 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 from associated syndromic tumours, in affected individuals and their at risk relatives. Investigations of familial phaeochromocytoma susceptibility syndromes have also provides clues to the molecular mechanisms of phaeochromocytoma development in familial cases and suggest that this differs from that seen in sporadic non-inherited cases.

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