Author:
Altinoz Meric A.,Santaguida Carlo,Guiot Marie-Christine,Del Maestro Rolando F.
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.
Publisher
Journal of Neurosurgery Publishing Group (JNSPG)
Cited by
35 articles.
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