ArticleJournal of cellular and molecular medicine
Mosaicism in von Hippel-Lindau disease: an event important to recognize.
Article in Journal of cellular and molecular medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 26 citations in OpenAlex.
- Von Hippel-Lindau disease: pathophysiological and clinical advances.Familial cancer · 2026Review
- End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes.Journal of medical genetics · 2026Article
- Retinal Capillary Haemangioblastoma: Clinical Spectrum, Imaging Insights, and Treatment Strategies.Ocular oncology and pathology · 2025Review
- Mosaic Form of von Hippel-Lindau Syndrome: Case Report and Literature Review.International journal of molecular sciences · 2025Review
- Hemangioblastoma and mosaic von Hippel Lindau disease: rare presentation and review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Review
- Case report: Obstructive azoospermia as the first presentation of Von Hippel-Lindau disease.Frontiers in oncology · 2023Article
- VHL mosaicism: the added value of multi-tissue analysis.NPJ genomic medicine · 2022Article
- Low-level parental mosaicism in an apparent de novo case of Peutz-Jeghers syndrome.Familial cancer · 2019Article
- Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome.Familial cancer · 2014Article
- VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.European journal of human genetics : EJHG · 2014Article
- Solid haemangioblastomas of the CNS: a review of 17 consecutive cases.Neurosurgical review · 2009Article
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Authors and funding
6 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
von Hippel-Lindau disease (VHL) is an autosomal dominant, familial neoplastic disorder with variable interfamilial and intrafamilial expression. VHL is characterized by pre-disposition to development of a combination of benign and malignant tumours affecting multiple organs. We provide molecular evidence of somatic mosaicism in nearly asymptomatic man whose daughter had VHL. The mosaic subject was found to have a cyst of the kidney and an angioma of the glans penis and had had surgery for a mandibular cyst and epididymal cystadenomas. Mosaicism could provide a genetic explanation for the clinical heterogeneity and variable severity of VHL. The real incidence of mosaicism is still unclear and the identification of mosaicism has important consequences in genetic counseling of VHL patients who appear to have de novo VHL mutations and should be considered when evaluating patients with isolated VHL-related tumours. Our results strongly suggest a complete and extensive clinical examination in the parents of each patient affected by an apparently de novo VHL germline mutation. We recommend performing a mutation screening of both parents of a proband with techniques that permit detection of low percentages of mosaicism before concluding that the proband has a de novo VHL mutation.
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