Von hippel-lindau disease associated pulmonary carcinoid with cranial metastasis.

Abstract

Carcinoids have rarely been described in von Hippel-Lindau (VHL) disease. 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. Histological and immunohistochemical features of the metastatic lesion were similar to the primary carcinoid. Both lesions demonstrated heterozygous VHL gene deletions with fluorescence in situ hybridization analysis. This case provides direct molecular genetic evidence of an association between VHL and carcinoids.