Searchable abstracts of presentations at key conferences in endocrinology

ea0014p118 | (1) | ECE2007

Novel germline VHL mutations associated to uncommon clinical presentations

Ercolino Tonino , Becherini Lucia , Simi Lisa , Sole Gaglianò Maria , Nesi Gabriella , Valeri Andrea , Mannelli Massimo

The von Hippel-Lindau (VHL) syndrome is an inherited multi-tumor disorder characterized by clinical heterogeneity and high penetrance. Pheochromocytoma (Pheo) is present in 10-15% of cases. It can be isolated or associated with other lesions such as hemangioblastomas, kidney cysts or cancer, and pancreatic lesions. Pheos secrete norepinephrine and are generally located in the adrenals. While performing genetic testing in patients affected by apparently sporadic pheos or PGLs, ...