ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2015
Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 30 citations in OpenAlex.
- Epigenetic Alterations in Meningiomas-A Review.Biomedicines · 2026Review
- Mother and daughter with a SMARCE1 mutation resulting in a cervical clear cell meningioma at an identical location: illustrative cases.Journal of neurosurgery. Case lessons · 2023Article
- SWI/SNF chromatin remodeling complex alterations in meningioma.Journal of cancer research and clinical oncology · 2021Article
- Molecular profiling of pediatric meningiomas shows tumor characteristics distinct from adult meningiomas.Acta neuropathologica · 2021Article
- Familial Pediatric Clear Cell Meningioma With Germline SMARCE1 Mutation in the United States.Journal of neuropathology and experimental neurology · 2020Article
- Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.Ophthalmology · 2020Article
- Germline genetic landscape of pediatric central nervous system tumors.Neuro-oncology · 2019Review
- New insights into the genomic landscape of meningiomas identified FGFR3 in a subset of patients with favorable prognoses.Oncotarget · 2019Article
- Molecular and translational advances in meningiomas.Neuro-oncology · 2019Review
- Pediatric intracranial clear cell meningioma: a clinicopathological study of seven cases and literature review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2017Review
- A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.Neurogenetics · 2016Review
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Authors and funding
7 authors at 4 institutions in 1 country.
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Abstract
purposeIntracranial clear cell meningioma (CCM) represents a rare and potentially more aggressive subgroup of meningioma that is observed more frequently in children and adolescents. Despite its characterization as a histological entity, there is little evidence identifying tumorigenic etiologies. Recently, a novel mutation in SMARCE1, encoding a subunit of the SWI/SNF chromatin remodeling complex, was identified in a cohort of spinal CCMs. To date, no intracranial CCM has been subjected to analysis.
methodsWe report the case of an isolated intracranial CCM in a 14-year-old girl. Gross total resection was achieved following a two-stage approach with no evidence of tumor recurrence 8 months following presentation.
resultsExon sequencing identified a germline mutation in SMARCE1, which was also present in tumor DNA. Extensive literature review confirmed our study is the first to seek and report a genetic anomaly for childhood intracranial CCMs outside of the NF2 gene locus, and the first to make an association between a germline SMARCE1 mutation and childhood intracranial CCMs.
conclusionsTogether with the previous description of SMARCE1 mutations in spinal CCMs, our report suggests that SMARCE1 aberrations may be implicated in establishing a clear cell histology irrespective of meningioma location. We would advocate that, where feasible, genetic sequencing is performed on future new cases of childhood neuraxial CCMs and includes interrogation of the SMARCE1 gene.
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