ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Risk of new tumors in von Hippel-Lindau patients depends on age and genotype.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis.BMC ophthalmology · 2024Pooled it
- Von Hippel-Lindau disease: pathophysiological and clinical advances.Familial cancer · 2026Review
- Pediatric and adolescent von Hippel-Lindau disease: tumor profiles, genotype-phenotype correlation and comparison with adults.Journal of endocrinological investigation · 2025Article
- Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study.BMC cancer · 2025Article
- Nonstop mutations cause loss of renal tumor suppressor proteinsScience advances · 2025Article
- Screening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease.Journal of neuro-oncology · 2024Article
- Time course of tumorigenesis of a newly developed sporadic hemangioblastoma in an elderly patient: illustrative case.Journal of neurosurgery. Case lessons · 2024Article
- Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma.Journal of the Endocrine Society · 2024Article
- Article
- Hereditary Endocrine Tumor Registries.Journal of the Endocrine Society · 2023Article
- The incidence of consecutive manifestations in Von Hippel-Lindau disease.Familial cancer · 2019Article
- Risk Analysis of Retinal Hemangioblastomas in Nonadvanced Stages of von Hippel-Lindau Syndrome Using Ultra-widefield Imaging: The ULTRA von Hippel-Lindau Study.Ophthalmology scienceArticle
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3 authors.
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Abstract
purposeThe von Hippel-Lindau (vHL) phenotype is variable, which complicates genetic counseling and surveillance. We describe how the rate of new tumor development varies through the lifetimes of vHL patients and how it is influenced by age and genotype.
methodsIn a national cohort study, we included 52 VHL mutation carriers who were retrospectively followed for a total of 799 person-years. From birth to current age, 581 manifestations were diagnosed during 2,583 examinations in the study subjects. Manifestation rates were analyzed using Poisson regression and compared in groups of different ages, tumor sites, and genotypes.
resultsThe rate of new tumor development varied significantly with age and was highest at 30-34 years (0.4 new tumors/year). Tumor location further influenced the rate. The risk of retinal tumors was highest in subjects during the teenage years but was highest for cerebellar tumors in subjects during their 30s. Truncating VHL mutation carriers had a significantly higher manifestation rate compared with missense mutation carriers (hazard ratio = 1.85, 95% confidence interval: 1.06-3.24, P value = 0.031).
conclusionThe rate of new manifestation development is not constant throughout the life span of vHL patients; instead, it varies significantly with age and genotype and depends on anatomical location. Retinal surveillance is crucial during the teenage years, whereas cerebellar surveillance is especially important in adulthood.Genet Med 18 1, 89-97.
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