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

J Clin Endocrinol Metab

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke (C.Z., A.I.Y., C.Y., C.L.N., P.C., J.D.H., Z.Z., K.A.Z.), and Laboratory of Pathology, National Cancer Institute (L.V., S.M., L.S., Z.A., S.D.P., A.G., M.M.Q.), National Institutes of Health, Bethesda, Maryland 20892; and Department of Orthopedics (C.Z.), Xinqiao Hospital, The Third Military Medical University, Chongqing 400037, China.

Published: August 2014

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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121022PMC
http://dx.doi.org/10.1210/jc.2014-1732DOI Listing

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