ReviewHuman genetics2017
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
Review in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 1 of them a synthesis that pooled it.
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Who cites it
71 citing papers in PubMed, 1 synthesis or guideline pooled it, 154 citations in OpenAlex.
- Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.European journal of human genetics : EJHG · 2018Pooled it
- DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.The Journal of clinical investigation · 2020Trial
- Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.Human genetics · 2018Trial
- A review of targeted therapies for NF2-related vestibular schwannoma: molecular pathogenesis, emerging therapeutics, and future clinical horizons.Journal of neuro-oncology · 2026Review
- High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients.Human genetics · 2026Article
- Case Report: Rare pheochromocytoma in a patient with Li-Fraumeni syndrome: a 3-event, 4-hit model of pathogenesis.Frontiers in oncology · 2026Article
- Imaging and pathology correlation in schwannomatosis: insights from a case series.BMC medical imaging · 2025Article
- Hybrid neurofibroma/schwannoma in schwannomatosis-a diagnostically challenging benign peripheral nerve sheath tumour.Familial cancer · 2025Review
- Hybrid granular cell tumor/perineurioma: a report of two rare cases with PIK3CA mutations.Virchows Archiv : an international journal of pathology · 2025Article
- SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.Familial cancer · 2025Review
- Pseudoglandular Schwannoma With FUS::KLF17 Fusion: Broadening the Spectrum of FUS-Associated Tumors.Genes, chromosomes & cancer · 2025Article
- Rare case of schwannomatosis presenting with cauda equina syndrome: a case report.Annals of medicine and surgery (2012) · 2025Article
- Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analyses.Neurogenetics · 2025Article
- Genetic Alterations in Patients withCancers · 2025Article
- Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis.Biomedicines · 2025Article
- Schwann cells in regeneration and cancer.Frontiers in pharmacology · 2025Review
- [Diagnostic and therapeutic perspectives in RASopathies].Magyar onkologia · 2024Review
- Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance.European journal of human genetics : EJHG · 2024Article
- Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.Heliyon · 2024Article
- Low back pain with axillary mass in a perimenopausal woman: A case of schwannomatosis mimicking metastasis.Radiology case reports · 2024Article
11 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations. Instead, germline mutations of either the SMARCB1 or LZTR1 tumour suppressor genes have been identified in 86% of familial and 40% of sporadic schwannomatosis patients. In contrast to patients with rhabdoid tumours, which are due to complete loss-of-function SMARCB1 mutations, individuals with schwannomatosis harbour predominantly hypomorphic SMARCB1 mutations which give rise to the synthesis of mutant proteins with residual function that do not cause rhabdoid tumours. Although biallelic mutations of SMARCB1 or LZTR1 have been detected in the tumours of patients with schwannomatosis, the classical two-hit model of tumorigenesis is insufficient to account for schwannoma growth, since NF2 is also frequently inactivated in these tumours. Consequently, tumorigenesis in schwannomatosis must involve the mutation of at least two different tumour suppressor genes, an occurrence frequently mediated by loss of heterozygosity of large parts of chromosome 22q harbouring not only SMARCB1 and LZTR1 but also NF2. Thus, schwannomatosis is paradigmatic for a tumour predisposition syndrome caused by the concomitant mutational inactivation of two or more tumour suppressor genes. This review provides an overview of current models of tumorigenesis and mutational patterns underlying schwannomatosis that will ultimately help to explain the complex clinical presentation of this rare disease.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.