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.
MeSH terms
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Child, Preschool
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Chromosomal Proteins, Non-Histone / genetics*
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DNA-Binding Proteins / genetics*
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Humans
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Laminectomy
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Loss of Heterozygosity*
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Lumbar Vertebrae
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Male
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Meningeal Neoplasms / complications
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Meningeal Neoplasms / diagnosis
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Meningeal Neoplasms / genetics
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Meningeal Neoplasms / surgery*
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Meningioma / complications
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Meningioma / diagnosis
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Meningioma / genetics
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Meningioma / surgery*
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Mutation*
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Spinal Cord Neoplasms / complications
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Spinal Cord Neoplasms / diagnosis
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Spinal Cord Neoplasms / genetics
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Spinal Cord Neoplasms / surgery*
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Urinary Incontinence / etiology
Substances
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Chromosomal Proteins, Non-Histone
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DNA-Binding Proteins
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SMARCE1 protein, human