期刊
JOURNAL OF NEUROSURGERY-PEDIATRICS
卷 16, 期 3, 页码 296-300出版社
AMER ASSOC NEUROLOGICAL SURGEONS
DOI: 10.3171/2015.3.PEDS14417
关键词
clear cell meningioma; SMARCE1; SWI/SNF; oncology
资金
- National Institute for Health Research [NF-SI-0509-10214] Funding Source: researchfish
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.
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