Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case.
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Raffalli-Ebezant H, Rutherford SA, Stivaros S, Kelsey A, Smith M, Evans DG, Kilday JP
Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case.
Childs Nerv Syst. 2015 Mar;31(3):441-7. doi: 10.1007/s00381-014-2558-5. Epub 2014 Sep 24.
- PubMed ID
- 25249420 [ View in PubMed]
- Abstract
PURPOSE: Intracranial 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.