ArticleJournal of medical genetics2002
Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.
Article in Journal of medical genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.
- Contemporary Molecular Biology of Sporadic Vestibular Schwannomas: A Systematic Review and Clinical Implications.The journal of international advanced otology · 2018Pooled it
- Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.Human genetics · 2018Trial
- Case Report: SomaticFrontiers in oncology · 2026Article
- Current molecular understanding of central nervous system schwannomas.Acta neuropathologica communications · 2025Review
- Genetic Alterations in Patients withCancers · 2025Article
- NF2 with NF1 Features a Unique Overlap.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2024Article
- Hearing Function after CyberKnife for Vestibular Schwannoma: A Systematic Review.International archives of otorhinolaryngology · 2024Review
- Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.The Laryngoscope · 2019Article
- The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.Human genetics · 2017Review
- Vestibular schwannoma and pituitary adenoma in the same patient: coincidence or novel clinical association?Journal of neuro-oncology · 2016Article
- Multifocality in neurofibromatosis type 2.Neuro-oncology · 2015Article
- Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas.Neuro-oncology · 2015Article
- Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review.Familial cancer · 2015Review
- Meningiomas and neurofibromatosis.Journal of neuro-oncology · 2010Review
- Neurofibromatosis type 2 (NF2): a clinical and molecular review.Orphanet journal of rare diseases · 2009Review
- Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification.Journal of medical genetics · 2007Article
- Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes.Journal of medical genetics · 2006Review
- Molecular genetics alterations and tumor behavior of sporadic vestibular schwannoma from the People's Republic of China.Journal of neuro-oncology · 2005Article
- Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction.The Journal of molecular diagnostics : JMD · 2005Article
- Loss of heterozygosity on chromosome 10q22-10q23 and 22q11.2-22q12.1 and p53 gene in primary hepatocellular carcinoma.World journal of gastroenterology · 2004Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 2 (NF2) must be suspected in patients presenting with a unilateral vestibular schwannoma at a young age who are therefore at theoretical risk of developing bilateral disease. We identified 45 patients aged 30 years or less at the onset of symptoms of a unilateral vestibular schwannoma. Molecular genetic analysis of the NF2 gene was completed on peripheral blood samples in all 45 and on 28 tumour samples. No pathogenic NF2 mutations were identified in any of the blood samples. NF2 point mutations were identified in 21/28 (75%) tumour samples and loss of heterozygosity (LOH) in 21/28 (75%) tumour samples. Both mutational hits were identified in 18/28 (65%) tumour samples. In one multilobular tumour, one (presumably first hit) mutation was confirmed which was common to different foci of the tumour, while the second mutational event differed between foci. The molecular findings in this patient were consistent with somatic mosaicism for NF2 and the clinical diagnosis was confirmed with the presence of two meningiomas on a follow up MRI scan. A further patient developed a contralateral vestibular schwannoma on a follow up MRI scan in whom neither of the truncating mutations in the vestibular schwannoma were present in blood. It is important when counselling patients with unilateral vestibular schwannomas to identify (1) those at risk of bilateral disease, (2) those at risk of developing other tumours, and (3) other family members at risk of developing NF2. Comparing tumour and blood DNA cannot exclude mosaicism in the index case and cannot, therefore, be used to predict those at risk of developing further tumours. However, identification of both mutations or one mutation plus LOH in the tumour and exclusion of those mutations in the blood samples of the sibs or offspring of the affected case may be sufficient to render further screening unnecessary in these relatives.
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