SMARCE1 mutations in pediatric clear cell meningioma: case report

Linton T Evans; Jack Van Hoff; William F Hickey; Miriam J Smith; Gareth Evans; William G Newman; David F Bauer

doi:10.3171/2015.3.PEDS14417

SMARCE1 mutations in pediatric clear cell meningioma: case report

Linton T Evans, Jack Van Hoff, William F Hickey, Miriam J Smith, Gareth Evans, William G Newman, David F Bauer

Division of Evolution, Infection and Genomics

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Journal	Journal of neurosurgery. Pediatrics
Volume	16
Issue number	3
DOIs	https://doi.org/10.3171/2015.3.PEDS14417
Publication status	Published - Jun 2015

Keywords

CCM = clear cell meningioma
NF2 = neurofibromatosis Type 2
SMARCE1
SWI/SNF
clear cell meningioma
oncology

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10.3171/2015.3.PEDS14417

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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.",

keywords = "CCM = clear cell meningioma, NF2 = neurofibromatosis Type 2, SMARCE1, SWI/SNF, clear cell meningioma, oncology",

author = "Evans, {Linton T} and {Van Hoff}, Jack and Hickey, {William F} and Smith, {Miriam J} and Gareth Evans and Newman, {William G} and Bauer, {David F}",

year = "2015",

month = jun,

doi = "10.3171/2015.3.PEDS14417",

language = "English",

volume = "16",

journal = "Journal of neurosurgery. Pediatrics",

issn = "1933-0715",

publisher = "American Association of Neurological Surgeons",

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TY - JOUR

T1 - SMARCE1 mutations in pediatric clear cell meningioma: case report

AU - Evans, Linton T

AU - Van Hoff, Jack

AU - Hickey, William F

AU - Smith, Miriam J

AU - Evans, Gareth

AU - Newman, William G

AU - Bauer, David F

PY - 2015/6

Y1 - 2015/6

N2 - 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.

AB - 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.

KW - CCM = clear cell meningioma

KW - NF2 = neurofibromatosis Type 2

KW - SMARCE1

KW - SWI/SNF

KW - clear cell meningioma

KW - oncology

U2 - 10.3171/2015.3.PEDS14417

DO - 10.3171/2015.3.PEDS14417

M3 - Article

C2 - 26114992

SN - 1933-0715

VL - 16

JO - Journal of neurosurgery. Pediatrics

JF - Journal of neurosurgery. Pediatrics

IS - 3

ER -

SMARCE1 mutations in pediatric clear cell meningioma: case report

Abstract

Keywords

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