ReviewChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2023
Hemangioblastoma and mosaic von Hippel Lindau disease: rare presentation and review of the literature.
Review in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed.
- 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
- Article
- Mosaic Form of von Hippel-Lindau Syndrome: Case Report and Literature Review.International journal of molecular sciences · 2025Review
- Anlotinib for the treatment of recurrent and refractory hemangioblastomas: a case report and review of literature.Frontiers in oncology · 2025Article
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Authors and funding
5 authors.
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Abstract
Hemangioblastomas are benign vascular tumors that can occur throughout the central nervous system (CNS) sporadically or in association with von Hippel-Lindau (VHL) disease. We present a case of an 11-year-old girl with a hemangioblastoma that tested negative for germline mutation of VHL disease at the time of diagnosis. Our patient went on to have multiple recurrences and further areas of concern for disease within the CNS. Repeat VHL testing was pursued many years later and remained negative for germline mutations. However, next-generation sequencing (NGS) testing on prior tumor tissue returned positive for VHL somatic mutations. The diagnosis of VHL mosaicism has important implications on management and risk of recurrence of hemangioblastoma, along with the need for close follow-up with surveillance imaging.
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