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: 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.
Conclusions: This case provides direct molecular genetic evidence of an association between VHL and carcinoids.