Searchable abstracts of presentations at key conferences in endocrinology

ea0011p509 | Endocrine tumours and neoplasia | ECE2006

Moleculargenetic and clinical characterisation of neurofibromatosis type 1 – associated pheochromocytoma

Bausch B , Neumann HP

Familial pheochromocytoma is inherited as a component of one of 5 pheochromocytoma – related syndromes such as von Hippel-Lindau disease, multiple endocrine neoplasia type 2 and the paraganglioma syndromes type 1 and type 4.Neurofibromatosis type 1 is often cited as the fifth of these syndromes but a clinical-genetic characterisation does not exist. 0.1 to 5.7% of patients with neurofibromatosis type 1 have pheochromocytoma. The NF1 gene as the susc...