title: Spinal hemangioblastoma containing metastatic renal cell carcinoma in von Hippel-Lindau disease. Case report and review of the literature.
abstract: The authors describe the case of a patient with von Hippel-Lindau (VHL) disease in which a spinal hemangioblastoma contained metastatic renal cell carcinoma (RCC). The literature on tumor-to-tumor metastasis associated with VHL disease of the central nervous system (CNS) is reviewed. Midthoracic back pain developed in this 43-year-old man with a left-sided radicular component 2 years after he underwent resection of a left RCC. Radiological findings demonstrated a T6-7 intradural intramedullary lesion. A T5-8 laminectomy and gross-total resection of the spinal cord mass were performed. Light and electron microscopic examination showed features of hemangioblastoma, which contained metastatic foci of RCC. Genetic analysis demonstrated the presence of a deleting mutation in the first exon (nt. 394-406) of the VHL locus, truncating 16 amino acids (N61-77) from the first beta sheet in the VHL protein. A review of the literature revealed that RCC-to-CNS hemangioblastoma is the second most common donor-recipient tumor association among the tumor-to-tumor metastases.
authors.affiliation: Department of Neurosurgery, Brain Tumour Research Center, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
authors.forename: Meric A
authors.initials: MA
authors.lastname: Altinoz
authors.forename: Carlo
authors.initials: C
authors.lastname: Santaguida
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: Guiot
authors.forename: Rolando F
authors.initials: RF
authors.lastname: Del Maestro
mesh_terms: D000328:Adult; D001416:Back Pain / Q000209:etiology; D002292:Carcinoma, Renal Cell / Q000235:genetics / Q000556:secondary*; D018325:Hemangioblastoma / Q000235:genetics / Q000473:pathology* / Q000556:secondary*; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics / Q000473:pathology*; D007796:Laminectomy; D008297:Male; D013120:Spinal Cord Neoplasms / Q000235:genetics / Q000556:secondary*; D013904:Thoracic Vertebrae; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D006623:von Hippel-Lindau Disease
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human