Neuroendocrine tumors and von Hipple-Lindau disease: three cases

BACKGROUND: Neuroendocrine tumors can occur in patients with hereditary syn dromes predisposing to multiple endocrine neoplasia (MEN) and Von Hippel-Li ndau disease (VHL). CASE REPORTS: We report the cases of three men with pheochromocytomas, one with an associated neuroendocrine tumor of the pancreas, in one case, diagn osis was suggested by the familial context of VHL in the patients father. i n the two other cases, the bilateral character of the pheochromocyomas and in one case the associated pancreatic neuroendocrine tumor led to the diagn osis of VHL. Systematic biological surveillance gave the diagnosis of contr alateral pheochromocytoma in two cases. search for associated tumoral lesio ns led to the diagnosis of hemangioblastoma of the cerebellum in two patien ts and pancreatic cyst in the third. No renal or retinal lesions were obser ved. Molecular study of the VHL gene evidenced point nonsense mutation of t he gene in all three patients, involving codon 184 in two and codon 167 in the third (identical to the proband case). Systematic investigations in the families of the two other patients remains to be completed. CONCLUSION: The diagnosis of HVL disease should be suggested in case of fam ilial pheochromocytoma and/or bilateral localizations, but also in case of neuroendocrine tumors of the pancreas associated with another cardinal lesi on of the disease. Early screening and treatment of this potentially fatal disease is essential.