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  • Title: [Analysis of spinal cord hemangioblastoma in von Hippel-Lindau disease].
    Author: Nakashima H, Tokunaga K, Tamiya T, Matsumoto K, Ohmoto T, Furuta T.
    Journal: No Shinkei Geka; 1999 Jun; 27(6):533-40. PubMed ID: 10396736.
    Abstract:
    Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary disorder showing various clinical features. We analyzed 6 patients with spinal cord hemangioblastoma associated with VHL disease in four families. All patients had cerebellar hemangioblastomas. Four cases carried retinal hemangioblastoma and 5 cases showed visceral lesions; renal cell carcinoma (2 cases), renal cyst (2 cases), pancreas cyst (2 cases) and paraovarian tumor. In four cases, spinal cord hemangioblastomas were multiple. Ten symptomatic or rapidly growing lesions in 5 patients were surgically resected. Two of these lesions were extramedullary spinal root hemangioblastoma. Operative results were good except for a case of ventrally placed thoracic spinal intramedullary hemangioblastoma who showed paraparesis postoperatively. One patient who suffered from complete paraplegia preoperatively did not recover after surgery. In two patients, renal cell carcinoma was detected and nephrectomy was undergone. It was noteworthy that metastasis of renal cell carcinoma to the hemangioblastoma was histologically proved with anti-cytokeratin immunostaining in two patients with VHL-associated renal cell carcinoma. Molecular genetic analysis showed a missence mutation in one family and possible intragenic deletion in another family. However, two families showed no VHL gene mutation with single strand conformational polymorphism or Southern blot analyses. Spinal cord hemangioblastomas in VHL disease are often multiple and located at various sites and seem to be underestimated. Surveillance should start in childhood and requires annual follow-up with imaging of the central nervous system and abdominal viscera. Presymptomatic diagnosis by gene analysis can be very useful for early detection of this disease.
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