SMARCE1 mutations in pediatric clear cell meningioma: case report

Evans, Linton T.; Hoff, Jack van; Hickey, William F.; Smith, Miriam J.; Evans, D Gareth; Newman, William G.; Bauer, David F.

doi:10.3171/2015.3.peds14417

Cited by 29 publications

(36 citation statements)

References 18 publications

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“…Furthermore, germline SMARCE 1 (SWItch/sucrose non-fermentable-related matrixassociated actin-dependent regulator of chromatin subfamily E member 1) mutations have been linked with spinal and cranial clear cell meningiomas. 15,16 Smith et al identified SMARCE 1 mutations and loss of SMARCE 1 proteins in patients and paraffinembedded tissue blocks of spinal and cranial clear cell meningioma cases. 15 The treatment of choice for clear cell meningiomas is total surgical resection, with radiotherapy and chemotherapy being reserved for recurrent cases.…”

Section: Resultsmentioning

confidence: 99%

Suprasellar Clear Cell Meningioma in an Infant: Case report

Anunobi

Bankole

Ikeri

et al. 2016

SQUMJ

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Section: Resultsmentioning

confidence: 99%

Suprasellar Clear Cell Meningioma in an Infant: Case report

Anunobi

Bankole

Ikeri

et al. 2016

SQUMJ

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“…The most common are germline NF2 mutations, responsible for neurofibromatosis type 2 (NF2) . Two genes ( SMARCB1 and SMARCE1 ), encoding two proteins of the SWI/SNF complex (BAF47 and SMARCE1), have also been recently implicated in hereditary meningiomatosis (, cf. review in ).…”

Section: Introductionmentioning

confidence: 99%

Loss of SMARCE1 expression is a specific diagnostic marker of clear cell meningioma: a comprehensive immunophenotypical and molecular analysis

et al. 2017

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Clear cell meningioma (CCM) is a rare grade II histopathological subtype that usually occurs in young patients and displays high recurrence rate. Germline SMARCE1 mutations have been described in hereditary forms of this disease and more recently in small syndromic and sporadic CCM series. The diagnostic value of SMARCE1 in distinguishing between CCM and other meningioma variants has not been yet established. The aim of our study was to investigate the status of SMARCE1 in a series of CCMs and its morphological mimickers. We compared the performance of an anti-SMARCE1 antibody and the molecular analysis of the SMARCE1 gene in a retrospective multicenter series of CCMs. All CCMs lossed SMARCE1 immunoexpression. Bi-allelic inactivating events were found by NGS-based sequencing in all of these cases, except for one, which was incompletely explored, but had a wild-type sequence. We then validated the anti-SMARCE1 antibody specificity by analyzing additional 305 pediatric and adult meningiomas of various subtypes and 15 non-meningioma clear cell tumors by SMARCE1 immunohistochemistry. A nuclear immunostaining was preserved in all other meningioma variants, as well as non-meningioma clear cell tumors. In conclusion, our series showed, for the first time, that SMARCE1 immunostaining is a highly sensitive biomarker for CCM, useful as a routine diagnostic biomarker.

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“…In case of CCM, germline loss‐of‐function mutations in the SMARCE1 chromatin remodelling factor were identified as a cause of both spinal and cranial CCM . To date, 12 families with SMARCE1 ‐associated CCM have been reported (Table ) . SMARCE1 mutations appear to be specific for the clear cell histological subtype, rather than tumour location or syndromic presentation .…”

Section: Introductionmentioning

confidence: 99%

“…8,14 To date, 12 families with SMARCE1-associated CCM have been reported (Table 1). 14-18 SMARCE1 17 †Discussed in more detail in Raffalli-Ebezant et al 2015. 15 mutations appear to be specific for the clear cell histological subtype, rather than tumour location or syndromic presentation.…”

Section: Introductionmentioning

confidence: 99%