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- PMID: 26114992
- UKPMCID: 26114992
- DOI: 10.3171/2015.3.PEDS14417
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SMARCE1 mutations in pediatric clear cell meningioma: case report.
Evans, Linton T; Van Hoff, Jack; Hickey, William F; Smith, Miriam J; Evans, D Gareth; Newman, William G; Bauer, David F
Journal of neurosurgery. Pediatrics. 2015;:1-5.
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Full-text held externally
- PMID: 26114992
- UKPMCID: 26114992
- DOI: 10.3171/2015.3.PEDS14417
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.
Keyword(s)
CCM = clear cell meningioma; NF2 = neurofibromatosis Type 2; SMARCE1; SWI/SNF; clear cell meningioma; oncology