title: SMARCE1 mutations in pediatric clear cell meningioma: case report.
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.
authors.affiliation: Section of Neurosurgery.
authors.forename: Linton T
authors.initials: LT
authors.lastname: Evans
authors.affiliation: Department of Pediatrics, and.|Norris Cotton Cancer Center;|Children's Hospital at Dartmouth-Hitchcock, Lebanon, New Hampshire; and.
authors.forename: Jack
authors.initials: J
authors.lastname: Van Hoff
authors.affiliation: Department of Pathology, Dartmouth-Hitchcock Medical Center;|Norris Cotton Cancer Center;
authors.forename: William F
authors.initials: WF
authors.lastname: Hickey
authors.affiliation: Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, University of Manchester, United Kingdom.
authors.forename: Miriam J
authors.initials: MJ
authors.lastname: Smith
authors.affiliation: Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, University of Manchester, United Kingdom.
authors.forename: D Gareth
authors.initials: DG
authors.lastname: Evans
authors.affiliation: Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, University of Manchester, United Kingdom.
authors.forename: William G
authors.initials: WG
authors.lastname: Newman
authors.affiliation: Section of Neurosurgery.|Department of Pediatrics, and.|Norris Cotton Cancer Center;|Children's Hospital at Dartmouth-Hitchcock, Lebanon, New Hampshire; and.
authors.forename: David F
authors.initials: DF
authors.lastname: Bauer
mesh_terms: D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007796:Laminectomy; D019656:Loss of Heterozygosity; D008159:Lumbar Vertebrae; D008297:Male; D008577:Meningeal Neoplasms / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D008579:Meningioma / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D009154:Mutation; D013120:Spinal Cord Neoplasms / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D014549:Urinary Incontinence / Q000209:etiology
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C504738:SMARCE1 protein, human
keywords: CCM = clear cell meningioma; NF2 = neurofibromatosis Type 2; SMARCE1; SWI/SNF; clear cell meningioma; oncology