ArticleNPJ genomic medicine2022
VHL mosaicism: the added value of multi-tissue analysis.
Article in NPJ genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 19 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
- The evolving roles of pathologists in paragangliomas and pheochromocytomas.Virchows Archiv : an international journal of pathology · 2026Review
- Retinal Capillary Haemangioblastoma: Clinical Spectrum, Imaging Insights, and Treatment Strategies.Ocular oncology and pathology · 2025Review
- Novel OCT Angiography Features, von Hippel-Lindau Disease Association, and Genetic Characterization of Juxtapapillary Retinal Capillary Hemangiomas.Investigative ophthalmology & visual science · 2025Article
- Mosaic Form of von Hippel-Lindau Syndrome: Case Report and Literature Review.International journal of molecular sciences · 2025Review
- Case report: Synchronous bladder and retroperitoneal paragangliomas: an extremely rare entity.Frontiers in oncology · 2025Article
- Multifocal, multiphenotypic tumours arising from an MTOR mutation acquired in early embryogenesis.Oncogene · 2024Article
- Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.Diagnostics (Basel, Switzerland) · 2024Review
- Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.Human molecular genetics · 2023Article
- 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
- Unique Characteristics of Patients with Von Hippel-Lindau Disease Defined by Various Diagnostic Criteria.Cancers · 2023Article
- Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Von Hippel-Lindau disease (VHL) is an autosomal dominant, inherited syndrome with variants in the VHL gene causing predisposition to multi-organ benign and malignant neoplasms. A germline VHL variant is identified in 95-100% of individuals with a clinical diagnosis of VHL. Here, we present the case of an individual with a clinical diagnosis of VHL disease where peripheral blood DNA analysis did not detect a VHL variant. Sequencing of four tumor tissues (ccRCC, pheochromocytoma, lung via sputum, liver) revealed a VHL c.593 T > C (p.Leu198Pro) variant at varying allele fractions (range: 10-55%) in all tissues. Re-examination of the peripheral blood sequencing data identified this variant at 6% allele fraction. Tumor analysis revealed characteristic cytomorphological, immunohistochemical reactivity for alpha-inhibin, and CAIX, and reduced pVHL reactivity supported VHL-related pseudohypoxia. This report of a rare case of VHL mosaicism highlights the value of tissue testing in VHL variant negative cases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.