Islet cell tumors in von Hippel-Lindau disease: increased prevalence and relationship to the multiple endocrine neoplasias.

Abstract

Von Hippel-Lindau disease is a rare, autosomal-dominant disorder characterized by CNS hemangioblastomas, retinal angiomas, renal cell carcinomas, pheochromocytomas, and visceral cysts. The occurrence of islet cell tumors in von Hippel-Lindau disease has been noted recently. Because of the coexistence of both islet cell tumors and pheochromocytomas in some patients with this disorder, it has been proposed that there may be a continuum of the multiple endocrine neoplasias. However, no large, multifamily study has been published evaluating the prevalence of islet cell tumors and pheochromocytomas in von Hippel-Lindau disease. To assess the frequency of islet cell tumors in this disorder and its relationship to the multiple endocrine neoplasias, we reviewed the clinical and imaging findings of all patients with von Hippel-Lindau disease evaluated at the Mayo Clinic between January 1979 and December 1989. Forty-three patients with von Hippel-Lindau disease from over 25 kindreds were found. Cross-sectional imag...