Sporadic hemangioblastoma of the CNS and von Hippel-Lindau diseases-updated results

M Smrcka, MD,a O Novotny, MD, a V Smrcka, MD, a R Gaillyova, MD, b E Krepelova, MD, c

aMasaryk University Brno Medical School, University Hospital Brno, Czech Republic, b Depatment of Medical Genetics, University Hospital Brno, Czech Republic, c Department of Medical Genetics, University General Hospital, Prague, Czech Republic.

Aim: To distinguish Von Hippel-Lindau (VHL) disease from a sporadic case of hemangioblastoma seems to be crucial for the management and follow up of these patients. A new diagnostic protocol on the basis of gene analysis have been started in our institution. Methods: We present 8 sporadic and 2 VHL cases treated in 1998-2001. One of these VHL patients had already a nephrectomy for a renal cell carcinoma. Since 2001 we examine the patients for the mutation in VHL suppressor gene in chromosome 3p25-p26. In all but one patient we performed a total resection of the hemangioblastoma. Results: Two patients had the gene analysis so far, one with clinical VHL was found positive, the other patient had a negative result. One conservatively treated VHL patient died due to complications related to his hemangioblastomas. All other patients have a good outcome and their screening for abdominal or retroperitoneal malignancies is so far negative. Conclusion: Disclosing a VHL case among those with only a solitary hemangioblastoma in the time of presentation requires an active detection for the mutated VHL gene. The occurrence of a renal cell carcinoma is very likely in VHL patients and the mortality of it has exceeded that of hemangioblastoma due to a better surgical results. Close life-long observation is needed to recognize the carcinoma soon and also for some potential for recurrent or de novo growth of hemangioblastoma.

KEY WORDS: gene analysis, microsurgery, follow up.

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Paper presented at the International Symposium on Predictive Oncology and Intervention Strategies; Paris, France; February 9 - 12, 2002; in the section on Familial and Hereditary Cancer.