ArticlePloS one2012
Genetic and epigenetic alterations of the NF2 gene in sporadic vestibular schwannomas.
Article in PloS one, 2012. 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, 47 citations in OpenAlex.
- Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.Human genetics · 2018Trial
- Vestibular schwannoma: genetic and epigenetic mechanisms, hearing loss, and emerging therapies.Journal of neuro-oncology · 2026Review
- Tumor Control After Radiosurgery in Sporadic and Neurofibromatosis Type 2 Vestibular Schwannomas.Cancer medicine · 2026Article
- Variable Schwann cell merlin inactivation is targetable with TEAD1 inhibition in schwannomas.bioRxiv : the preprint server for biology · 2025Article
- Comprehensive Genetic Analysis ofLaryngoscope investigative otolaryngology · 2025Article
- Epigenetic Mechanisms in Neurofibromatosis Types 1 and 2.Epigenomes · 2025Review
- Current molecular understanding of central nervous system schwannomas.Acta neuropathologica communications · 2025Review
- A rare histopathological variant of Schwannoma with rosette-like arrangements and epithelioid cells: a case report from a histopathologist's perspective.Journal of the Korean Association of Oral and Maxillofacial Surgeons · 2023Article
- Genetic variants of cancer‑associated genes analyzed using next‑generation sequencing in small sporadic vestibular schwannomas.Oncology letters · 2023Article
- Understanding the Molecular Mechanism of Vestibular Schwannoma for Hearing Preservation Surgery: Otologists' Perspective from Bedside to Bench.Diagnostics (Basel, Switzerland) · 2022Review
- Brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review.BMC medical genomics · 2021Review
- A Review of Drug Therapy in Vestibular Schwannoma.Drug design, development and therapy · 2021Review
- Potential Molecular Biomarkers of Vestibular Schwannoma Growth: Progress and Prospects.Frontiers in oncology · 2021Review
- Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2020Review
- Review
- Proposal for Modification of Cahan's Criteria Utilizing Molecular Genetic Analyses for Cases without Baseline Histopathology: A Unique Method Applicable to Primary Radiosurgery.Journal of neurological surgery. Part B, Skull base · 2019Article
- Differential NF2 Gene Status in Sporadic Vestibular Schwannomas and its Prognostic Impact on Tumour Growth Patterns.Scientific reports · 2017Article
- Geographic distribution of vestibular schwannomas in West Scotland between 2000-2015.PloS one · 2017Article
- Preclinical validation of anti-nuclear factor-kappa B therapy to inhibit human vestibular schwannoma growth.Molecular oncology · 2015Article
- Primary culture of human vestibular schwannomas.Journal of visualized experiments : JoVE · 2014Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in the neurofibromatosis type 2 (NF2) tumor-suppressor gene have been identified in not only NF2-related tumors but also sporadic vestibular schwannomas (VS). This study investigated the genetic and epigenetic alterations in tumors and blood from 30 Korean patients with sporadic VS and correlated these alterations with tumor behavior. METHODOLOGY/PRINCIPAL
findingsNF2 gene mutations were detected using PCR and direct DNA sequencing and three highly polymorphic microsatellite DNA markers were used to assess the loss of heterozygosity (LOH) from chromosome 22. Aberrant hypermethylation of the CpG island of the NF2 gene was also analyzed. The tumor size, the clinical growth index, and the proliferative activity assessed using the Ki-67 labeling index were evaluated. We found 18 mutations in 16 cases of 30 schwannomas (53%). The mutations included eight frameshift mutations, seven nonsense mutations, one in-frame deletion, one splicing donor site, and one missense mutation. Nine patients (30%) showed allelic loss. No patient had aberrant hypermethylation of the NF2 gene and correlation between NF2 genetic alterations and tumor behavior was not observed in this study. CONCLUSIONS/SIGNIFICANCE: The molecular genetic changes in sporadic VS identified here included mutations and allelic loss, but no aberrant hypermethylation of the NF2 gene was detected. In addition, no clear genotype/phenotype correlation was identified. Therefore, it is likely that other factors contribute to tumor formation and growth.
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