SMARCE1 mutations in pediatric clear cell meningioma: case report

J Neurosurg Pediatr. 2015 Sep;16(3):296-300. doi: 10.3171/2015.3.PEDS14417. Epub 2015 Jun 26.

Abstract

Clear cell meningioma (CCM) is an uncommon variant of meningioma. The authors describe a case of a pediatric CCM localized to the lumbar spine. After resection, sequencing revealed an inactivating mutation in the SWI/SNF chromatin remodeling complex subunit SMARCE1, with loss of the second allele in the tumor. The authors present a literature review of this mutation that is associated with CCM and a family history of spine tumors.

Keywords: CCM = clear cell meningioma; NF2 = neurofibromatosis Type 2; SMARCE1; SWI/SNF; clear cell meningioma; oncology.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosomal Proteins, Non-Histone / genetics*
  • DNA-Binding Proteins / genetics*
  • Humans
  • Laminectomy
  • Loss of Heterozygosity*
  • Lumbar Vertebrae
  • Male
  • Meningeal Neoplasms / complications
  • Meningeal Neoplasms / diagnosis
  • Meningeal Neoplasms / genetics
  • Meningeal Neoplasms / surgery*
  • Meningioma / complications
  • Meningioma / diagnosis
  • Meningioma / genetics
  • Meningioma / surgery*
  • Mutation*
  • Spinal Cord Neoplasms / complications
  • Spinal Cord Neoplasms / diagnosis
  • Spinal Cord Neoplasms / genetics
  • Spinal Cord Neoplasms / surgery*
  • Urinary Incontinence / etiology

Substances

  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • SMARCE1 protein, human