Low frequency ofVHLgermline mutations in Norwegian patients presenting with isolated central nervous system hemangioblastomas – a population-based study

Ronning P, Andresen PA, Hald JK, Heimdal K, Scheie D, Schreiner T, Helseth E. Low frequency of VHL germline mutations in Norwegian patients presenting with isolated central nervous system hemangioblastomas – a population-based study. Acta Neurol Scand: 2010: 122: 124–131. © 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. Objectives – Explore the genetic and clinical incidence of von Hippel–Lindau disease in patients presenting with isolated central nervous system hemangioblastomas. Results – We report a 3.2% (1/31) and 25% (8/32) incidence of genetic and clinical VHL, respectively. One patient tested positive for a VHL mutation that has not previously been reported. This genotype phenotypically predicts VHL type 2B. We had seven patients with renal cysts. In a total follow-up of 33 person years, none of these cysts progressed to renal cell carcinoma. Conclusion – von Hippel-Lindau disease anchored in germline mutations of the VHL gene is rare in the Norwegian population as opposed to clinical VHL disease, which appears to be relatively common in patients with apparently sporadic hemangioblastomas. There exists insufficient data regarding the natural history of patients with renal cysts, which makes it difficult to include or disregard these lesions as an entity of VHL disease.