SMARCE1 mutations in pediatric clear cell meningioma: case report
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Published on: September 4, 2017
Linton T Evans1, Jack Van Hoff2,3,4, William F Hickey5,3
1Section of Neurosurgery.
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.
Insights
Pediatric clear cell meningioma (CCM) in the lumbar spine was linked to a SMARCE1 gene mutation. This finding suggests a genetic basis for CCM and potential familial spine tumor risks.
Area of Science:
- Neuro-oncology
- Genetics
- Pediatric oncology
Background:
- Clear cell meningioma (CCM) is a rare meningioma subtype.
- CCM predominantly affects adults, with pediatric cases being exceptionally uncommon.
- Spinal CCMs are even rarer, posing diagnostic and therapeutic challenges.
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