Von Hippel-Lindau disease associated pulmonary carcinoid with cranial metastasis

Abstract

Context: Carcinoids have rarely been described in von Hippel-Lindau (VHL) disease. Objective: We describe the first reported case of a patient with VHL who developed a pulmonary carcinoid that subsequently metastasized to a pre-existent cranial hemangioblastoma. Results: Histologicalandimmunohistochemical features of the metastatic lesionweresimilar to the primary carcinoid. Both lesions demonstrated heterozygous VHL gene deletions with fluorescence in situ hybridization analysis. Conclusions: This case provides direct molecular genetic evidence of an association between VHL and carcinoids. Copyright © 2014 by the Endocrine Society.