ArticleActa neuropathologica2021
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.
Article in Acta neuropathologica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 26 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
26 citing papers in PubMed, 48 citations in OpenAlex.
- TANC1::HTRA1 fusion in schwannomas.Brain pathology (Zurich, Switzerland) · 2026Article
- Pathogenesis of Noonan Syndrome is Modulated by NOC2L, a Novel Interactor of LZTR1 Leading to Impaired P53 Signalling.The Journal of clinical endocrinology and metabolism · 2026Article
- Novel susceptibility genes for non-NF2-/LZTR1-/SMARCB1-related hereditary schwannomatosis.Familial cancer · 2025Review
- Genetic and clinical characteristics of cranial nerve schwannoma harboring SH3PXD2A-HTRA1 fusion gene.Acta neuropathologica · 2025Article
- SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.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
- A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations.Genome medicine · 2025Article
- Current molecular understanding of central nervous system schwannomas.Acta neuropathologica communications · 2025Review
- WWC proteins-mediated compensatory mechanism restricts schwannomatosis driven byScience advances · 2025Article
- Development of a 23-Gene Signature for Tumor Growth Mechanism in Vestibular Schwannoma.Cancers · 2024Article
- Current state of spinal nerve sheath tumor management and future advances.Neuro-oncology advances · 2024Review
- Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.Neuro-oncology · 2023Article
- Unraveling schwannomas.Neuro-oncology · 2023Article
- Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis.Acta neuropathologica · 2023Article
- Orbital SOX10-mutant schwannoma with plexiform growth: Expanding the histopathological spectrum of a new molecular group.Journal of neuropathology and experimental neurology · 2023Article
- SMARCA4-associated schwannomatosis.Acta neuropathologica · 2023Article
- A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature.Frontiers in neurology · 2023Article
- Nervous system (NS) Tumors in Cancer Predisposition Syndromes.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Review
- Understanding barriers to diagnosis in a rare, genetic disease: Delays and errors in diagnosing schwannomatosis.American journal of medical genetics. Part A · 2022Review
- Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors.Brain tumor pathology · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
24 authors at 11 institutions in 4 countries.
Funding
Abstract
Schwannomatosis (SWNTS) is a genetic cancer predisposition syndrome that manifests as multiple and often painful neuronal tumors called schwannomas (SWNs). While germline mutations in SMARCB1 or LZTR1, plus somatic mutations in NF2 and loss of heterozygosity in chromosome 22q have been identified in a subset of patients, little is known about the epigenomic and genomic alterations that drive SWNTS-related SWNs (SWNTS-SWNs) in a majority of the cases. We performed multiplatform genomic analysis and established the molecular signature of SWNTS-SWNs. We show that SWNTS-SWNs harbor distinct genomic features relative to the histologically identical non-syndromic sporadic SWNs (NS-SWNS). We demonstrate the existence of four distinct DNA methylation subgroups of SWNTS-SWNs that are associated with specific transcriptional programs and tumor location. We show several novel recurrent non-22q deletions and structural rearrangements. We detected the SH3PXD2A-HTRA1 gene fusion in SWNTS-SWNs, with predominance in LZTR1-mutant tumors. In addition, we identified specific genetic, epigenetic, and actionable transcriptional programs associated with painful SWNTS-SWNs including PIGF, VEGF, MEK, and MTOR pathways, which may be harnessed for management of this syndrome.
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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.