Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla or extra-adrenal paraganglia, respectively. PPGLs have the highest degree of heritability among endocrine tumors. Currently, ~40% of individuals with PPGLs have a genetic germline and there are at least 12 different genetic syndromes related to these tumors, such as multiple endocrine neoplasia 2, von-Hippel Lindau disease (VHL) e neurofibromatose 1. VHL is an autosomal dominant, inherited tumor predisposition syndrome caused by germline mutations in the VHL tumor suppressor gene. VHL diagnosis is established in an individual with a single characteristic VHL-related tumor (i.e., CNS or retinal hemangioblastoma, renal cell carcinoma, PPGL or pancreatic neuroendocrine tumor) and a family history of VHL. Approximately 50% of VHL patients develop PPGLs, mainly pheochromocytomas (60% bilateral). We have actually approximately 50 patients with VHL. Our aims in this project is to investigate de genetic etiology of patients with clinical diagnosis of VHL and in their first-degree relatives. Moreover, the genotype-phenotype correlation will be investigated in the VHL cohort.
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