title: Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Paediatric Neurosurgery, Royal Manchester Children's Hospital, Oxford Road, M13 9WL, Manchester, England, UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Raffalli-Ebezant
authors.forename: Scott A
authors.initials: SA
authors.lastname: Rutherford
authors.forename: Stavros
authors.initials: S
authors.lastname: Stivaros
authors.forename: Anna
authors.initials: A
authors.lastname: Kelsey
authors.forename: Miriam
authors.initials: M
authors.lastname: Smith
authors.forename: D Gareth
authors.initials: DG
authors.lastname: Evans
authors.forename: John-Paul
authors.initials: JP
authors.lastname: Kilday
mesh_terms: D000293:Adolescent; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008579:Meningioma / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C504738:SMARCE1 protein, human