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

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.