ArticleAmerican journal of medical genetics. Part A2013
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.
Article in American journal of medical genetics. Part A, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 1 of them a synthesis that pooled it.
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Who cites it
76 citing papers in PubMed, 1 synthesis or guideline pooled it, 185 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
- Deciphering and Targeting the Schwannoma-Neuron-Macrophage Crosstalk for the Treatment of Schwannomatosis and Associated Pain.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Malignant peripheral nerve sheath tumors arising in SMARCB1-associated schwannomatosis: illustrative cases.Journal of neurosurgery. Case lessons · 2026Article
- Schwannomatosis tumor modeling: progress and prospects for translational research.Journal of biological engineering · 2026Review
- A rare constellation of bilateral progressive visual and auditory loss in neurofibromatosis type 2: a multimodal diagnostic approach.Annals of medicine and surgery (2012) · 2026Article
- Foraminal widening indicating a spinal nerve tumor in the saber-tooth catFrontiers in veterinary science · 2026Article
- Imaging and pathology correlation in schwannomatosis: insights from a case series.BMC medical imaging · 2025Article
- Gallbladder Schwannoma: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2025Article
- Genetic Basis and Clinical Management of Schwannomatosis.Journal of Korean Neurosurgical Society · 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
- Rare multiple schwannomas of the left upper extremity: A case report.Oncology letters · 2025Article
- Multiple schwannomas of cauda equina and peripherals: A case report.Radiology case reports · 2024Article
- Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.Heliyon · 2024Article
- Historical Development of Diagnostic Criteria for NF2-related Schwannomatosis.Neurologia medico-chirurgica · 2024Article
- Neurofibromatosis type1, type 2, tuberous sclerosis and Von Hippel-Lindau disease.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Article
- A Rare Case of Familial Schwannomatosis Showing Intrafamilial Variability with Identification of a Shared Novel GermlineMedicina (Kaunas, Lithuania) · 2022Article
- Understanding barriers to diagnosis in a rare, genetic disease: Delays and errors in diagnosing schwannomatosis.American journal of medical genetics. Part A · 2022Review
- Schwannomatosis patient who was followed up for fifteen years: A case report.World journal of clinical cases · 2022Article
16 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 14 institutions in 4 countries.
Funding
Abstract
Schwannomatosis is the third major form of neurofibromatosis and is characterized by the development of multiple schwannomas in the absence of bilateral vestibular schwannomas. The 2011 Schwannomatosis Update was organized by the Children's Tumor Foundation (www.ctf.org) and held in Los Angeles, CA, from June 5-8, 2011. This article summarizes the highlights presented at the Conference and represents the "state-of-the-field" in 2011. Genetic studies indicate that constitutional mutations in the SMARCB1 tumor suppressor gene occur in 40-50% of familial cases and in 8-10% of sporadic cases of schwannomatosis. Tumorigenesis is thought to occur through a four-hit, three-step model, beginning with a germline mutation in SMARCB1 (hit 1), followed by loss of a portion of chromosome 22 that contains the second SMARCB1 allele and one NF2 allele (hits 2 and 3), followed by mutation of the remaining wild-type NF2 allele (hit 4). Insights from research on HIV and pediatric rhabdoid tumors have shed light on potential molecular pathways that are dysregulated in schwannomatosis-related schwannomas. Mouse models of schwannomatosis have been developed and promise to further expand our understanding of tumorigenesis and the tumor microenvironment. Clinical reports have described the occurrence of intracranial meningiomas in schwannomatosis patients and in families with germline SMARCB1 mutations. The authors propose updated diagnostic criteria to incorporate new clinical and genetic findings since 2005. In the next 5 years, the authors expect that advances in basic research in the pathogenesis of schwannomatosis will lead toward clinical investigations of potential drug therapies.
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Registered trials
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.