ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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44 citing papers in PubMed, 100 citations in OpenAlex.
- Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study.European journal of human genetics : EJHG · 2026Article
- Clinical and Imaging Phenotype of Schwannomatosis in Children, Adolescents and Young Adults.Cancers · 2026Article
- 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
- Divergence in intra-tumor variant frequencies in sporadic vestibular schwannomas as a potential indication for mosaic NF2-related schwannomatosis?Neurogenetics · 2026Article
- [BMJ open · 2026Article
- T-cell-targeted immunotherapy in neurofibromatosis type 2-related vestibular schwannoma: current evidence and future direction.Brain communications · 2026Review
- The clinical spectrum of paediatric NF2- related schwannomatosis.Familial cancer · 2025Review
- Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies.Familial cancer · 2025Review
- History and clinical epidemiology of NF2-related schwannomatosis.Familial cancer · 2025Review
- Multiplatform molecular analyses reveal two molecular subgroups of NF2-related schwannomatosis vestibular schwannomas with distinct tumour microenvironment and therapeutic vulnerabilities.Acta neuropathologica · 2025Article
- Clinical and Genetic Overview of Neurofibromatosis Type 2 (NF2).Journal of Korean Neurosurgical Society · 2025Article
- High de novo mutation rate in Iranian NF2-related schwannomatosis patients with a report of a novel NF2 mutation.Molecular biology reports · 2025Article
- Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Current molecular understanding of central nervous system schwannomas.Acta neuropathologica communications · 2025Review
- Genetic Alterations in Patients withCancers · 2025Article
- Human embryonic genetic mosaicism and its effects on development and disease.Nature reviews. Genetics · 2024Review
- Gene Therapy for Neurofibromatosis Type 2-Related Schwannomatosis: Recent Progress, Challenges, and Future Directions.Oncology and therapy · 2024Review
- Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.Heliyon · 2024Article
- Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors.International journal of molecular sciences · 2023Article
- Management of Central and Peripheral Nervous System Tumors in Patients with Neurofibromatosis.Current oncology reports · 2023Review
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30 authors at 8 institutions in 1 country.
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Abstract
purposeTo evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2).
methodsPatients fulfilling NF2 criteria, but with no known affected family member from a previous generation (n = 1055), were tested for NF2 variants in lymphocyte DNA and where available tumor DNA. The proportion of individuals with a proven or presumed mosaic NF2 variant was assessed and allele frequencies of identified variants evaluated using next-generation sequencing.
resultsThe rate of proven/presumed mosaicism was 232/1055 (22.0%). However, nonmosaic heterozygous pathogenic variants were only identified in 387/1055 (36.7%). When variant detection rates in second generation nonmosaics were applied to de novo cases, we assessed the overall probable mosaicism rate to be 59.7%. This rate differed by age from 21.7% in those presenting with bilateral vestibular schwannoma <20 years to 80.7% in those aged ≥60 years. A mosaic variant was detected in all parents of affected children with a single-nucleotide pathogenic NF2 variant.
conclusionThis study has identified a very high probable mosaicism rate in de novo NF2, probably making NF2 the condition with the highest expressed rate of mosaicism in de novo dominant disease that is nonlethal in heterozygote form. Risks to offspring are small and probably correlate with variant allele frequency detected in blood.
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