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

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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.

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Acknowledgments

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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Authors and Affiliations

  1. Department of Paediatric Neurosurgery, Royal Manchester Children’s Hospital, Oxford Road, M13 9WL, Manchester, England, UK

    Helen Raffalli-Ebezant

  2. Department of Neurosurgery, Salford Royal Hospital, Stott Lane, M6 8HD, Salford, England, UK

    Scott A Rutherford

  3. Department of Paediatric Neuro-radiology, Royal Manchester Children’s Hospital, Oxford Road, M13 9WL, Manchester, England, UK

    Stavros Stivaros

  4. Department of Histopathology, Royal Manchester Children’s Hospital, Oxford Road, M13 9WL, Manchester, England, UK

    Anna Kelsey

  5. Department of Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St. Mary’s Hospital, University of Manchester, M13 9WL, Manchester, England, UK

    Miriam Smith & D Gareth Evans

  6. Department of Haematology/Oncology, Royal Manchester Children’s Hospital, Oxford Road, M13 9WL, Manchester, England, UK

    John-Paul Kilday

Authors
  1. Helen Raffalli-Ebezant
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  2. Scott A Rutherford
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  3. Stavros Stivaros
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  4. Anna Kelsey
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  5. Miriam Smith
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  6. D Gareth Evans
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  7. John-Paul Kilday
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Correspondence to John-Paul Kilday.

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Raffalli-Ebezant, H., Rutherford, S.A., Stivaros, S. et al. Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case. Childs Nerv Syst 31, 441–447 (2015). https://doi.org/10.1007/s00381-014-2558-5

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  • DOI: https://doi.org/10.1007/s00381-014-2558-5

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