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Low frequency ofVHLgermline mutations in Norwegian patients presenting with isolated central nervous system hemangioblastomas â a population-based study
- Source :
- Acta Neurologica Scandinavica.
- Publication Year :
- 2009
- Publisher :
- Hindawi Limited, 2009.
-
Abstract
- 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.
- Subjects :
- Adult
Male
Pathology
medicine.medical_specialty
von Hippel-Lindau Disease
endocrine system diseases
DNA Mutational Analysis
Population
urologic and male genital diseases
Central Nervous System Neoplasms
Central nervous system disease
Germline mutation
Renal cell carcinoma
Hemangioblastoma
Genotype
medicine
Humans
Genetic Testing
Von Hippel–Lindau disease
education
neoplasms
Germ-Line Mutation
Genetic testing
education.field_of_study
medicine.diagnostic_test
Norway
business.industry
Genetic Carrier Screening
General Medicine
Kidney Diseases, Cystic
Middle Aged
medicine.disease
female genital diseases and pregnancy complications
Cross-Sectional Studies
Neurology
Female
Neurology (clinical)
business
Subjects
Details
- ISSN :
- 16000404 and 00016314
- Database :
- OpenAIRE
- Journal :
- Acta Neurologica Scandinavica
- Accession number :
- edsair.doi.dedup.....d75db9133d225bf050816975d4d339b8