期刊
CHILDS NERVOUS SYSTEM
卷 31, 期 3, 页码 441-447出版社
SPRINGER
DOI: 10.1007/s00381-014-2558-5
关键词
Pediatric; Intracranial; Meningioma; Clear cell; SMARCE1 mutation
资金
- MRC [G0600485] Funding Source: UKRI
- National Institutes of Health Research (NIHR) [NIHR/CS/010/021] Funding Source: National Institutes of Health Research (NIHR)
- Medical Research Council [G0600485] Funding Source: researchfish
- National Institute for Health Research [NIHR/CS/010/021] Funding Source: researchfish
- Medical Research Council [G0600485] Funding Source: Medline
- Department of Health [NIHR/CS/010/021] Funding Source: Medline
Intracranial clear cellmeningioma (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. We 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. Exon 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. Together 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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