Child's Nervous System

, Volume 31, Issue 3, pp 441–447 | Cite as

Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case

  • Helen Raffalli-Ebezant
  • Scott A Rutherford
  • Stavros Stivaros
  • Anna Kelsey
  • Miriam Smith
  • D Gareth Evans
  • John-Paul Kilday
Case Report



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.


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.


Pediatric Intracranial Meningioma Clear cell SMARCE1 mutation 



We would like to thank N. Bowers and H. Eaton for their contribution to the genetic sequencing and to acknowledge I. Kamaly-Asl, V. Josan, and S. Freeman for their involvement in the clinical care and operative management of the patient.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Helen Raffalli-Ebezant
    • 1
  • Scott A Rutherford
    • 2
  • Stavros Stivaros
    • 3
  • Anna Kelsey
    • 4
  • Miriam Smith
    • 5
  • D Gareth Evans
    • 5
  • John-Paul Kilday
    • 6
  1. 1.Department of Paediatric NeurosurgeryRoyal Manchester Children’s HospitalManchesterUK
  2. 2.Department of NeurosurgerySalford Royal HospitalSalfordUK
  3. 3.Department of Paediatric Neuro-radiologyRoyal Manchester Children’s HospitalManchesterUK
  4. 4.Department of HistopathologyRoyal Manchester Children’s HospitalManchesterUK
  5. 5.Department of Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St. Mary’s HospitalUniversity of ManchesterManchesterUK
  6. 6.Department of Haematology/OncologyRoyal Manchester Children’s HospitalManchesterUK

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