ArticleNeuro-oncology2017
Differences in genetic and epigenetic alterations between von Hippel-Lindau disease-related and sporadic hemangioblastomas of the central nervous system.
Article in Neuro-oncology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 37 citations in OpenAlex.
- Belzutifan-induced tumor regression in sporadic hemangioblastoma: a case report and literature review.Journal of neuro-oncology · 2026Review
- Whole-Genome Landscape of Retinal Hemangioblastomas.Translational vision science & technology · 2026Article
- Gross total resection is associated with improvement and prognosis even in von Hippel-Lindau disease-related hemangioblastomas: Nationwide registry in Japan.Neuro-oncology practice · 2025Article
- Epigenetic Insights into Tuberous Sclerosis Complex, Von Hippel-Lindau Syndrome, and Ataxia-Telangiectasia.Epigenomes · 2025Review
- Fibroblast growth factor receptor expression in hemangioblastomas: A novel therapeutic target.PloS one · 2025Article
- Total loss ofProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Radiosurgically Treated Recurrent Cerebellar Hemangioblastoma: A Case Report and Literature Review.Current oncology (Toronto, Ont.) · 2024Review
- Time course of tumorigenesis of a newly developed sporadic hemangioblastoma in an elderly patient: illustrative case.Journal of neurosurgery. Case lessons · 2024Article
- Central Nervous System Dissemination of Solitary Sporadic Supratentorial Hemangioblastoma: A Case Report and Literature Review.Brain tumor research and treatment · 2024Article
- Relationship between ZHX2 Expression and VHL Gene Alteration in VHL-associated and Sporadic Hemangioblastomas of the Central Nervous System.Journal of kidney cancer and VHL · 2024Article
- Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing.Cureus · 2023Article
- Hemangioblastomas and Other Vascular Origating Tumors of Brain or Spinal Cord.Advances in experimental medicine and biology · 2023Review
- DNA methylation profiling of central nervous system hemangioblastomas identifies two distinct subgroups.Brain pathology (Zurich, Switzerland) · 2022Article
- Neuropathologic features of central nervous system hemangioblastoma.Journal of pathology and translational medicine · 2022Review
- Review
- Article
- Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing.BMC medical genetics · 2020Article
- Hemangioblastoma: clinicopathologic study of 42 cases with emphasis on TFE3 expression.American journal of translational research · 2020Article
- A novel neuroimaging assessment of predictive risk factors associated with intraoperative massive hemorrhage in intracranial solid hemangioblastoma.Quantitative imaging in medicine and surgery · 2019Article
- Molecular foundations of primary spinal tumors-implications for surgical management.Annals of translational medicine · 2019Review
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Although inactivation of the von Hippel-Lindau gene (VHL), located on chromosome 3p25, is considered to be a major cause of hemangioblastomas (HBs), the incidence of biallelic inactivation of VHL is reportedly low. The aim of this study was to determine the prevalence of VHL alterations in HBs, as well as to identify additional molecular aberrations. Methods: Genetic and epigenetic alterations were comprehensively and comparatively analyzed in 11 VHL-related and 21 sporadic HBs. Results: VHL alterations detected by sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis were more frequent in VHL-related HBs than in sporadic HBs (100% vs 62%; P = 0.029). VHL alterations were found only in 4 sporadic HBs by direct sequencing; however, targeted deep sequencing detected 9 additional alterations. Loss of heterozygosity (LOH) on chromosome 3 was found in 64% and 57% of VHL-related and sporadic HBs, respectively, by single nucleotide polymorphism (SNP) array analysis. Among 19 tumors with chromosome 3 LOH, 5 were classified as copy-neutral LOH. VHL promoter hypermethylation was detected only in sporadic HBs (33%), indicating that epigenetic suppression of VHL is a common mechanism in sporadic HBs. The rate of biallelic VHL inactivation among VHL-related and sporadic HBs was 64% and 52%, respectively. LOH on either chromosome 6 or 10 was detected only in sporadic HBs (43%). Conclusion: Although biallelic inactivation of VHL is a dominant mechanistic cause of the pathogenesis of HB, other unknown mechanisms may also be involved, and such mechanisms may be different between VHL-related and sporadic HB.
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