Suprasellar Clear Cell Meningioma in an Infant: Case report

Anunobi, C C; Bankole, OB; Ikeri, Nzechukwu Zimudo; Adeleke, Nurudeen Abiola

doi:10.18295/squmj.2016.16.03.018

Cited by 2 publications

(5 citation statements)

References 14 publications

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“…This is consistent with the low mean (30.9 years) and median (26 years) age of patients with CCM (from 8 months to 88 years) relative to the median age of meningioma in general (65 years) . In the literature, the female‐to‐male ratio of patients with CCM was 1.1 (124 females and 110 males) (, cf. review in ).…”

Section: Introductionsupporting

confidence: 83%

“…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%

“…review in ). Over the last three years, germline mutations in the SMARCE1 gene have been described in 20 unrelated families (, cf. review in ).…”

Section: Introductionmentioning

confidence: 99%

“…These familial forms are linked to inherited germline mutations, mainly in exon 6 , with inactivation of the wild‐type allele in the tumor cells, according to the Knudson hypothesis . SMARCE1 ‐deficient meningiomas are of only the clear cell subtype (, cf. review in ).…”

Section: Introductionmentioning

confidence: 99%

“…In the literature, SMARCE1 ‐deficient CCMs have been particularly described in children (approximately 36% of reported CCMs, from 8 months to 17 years of age) (, cf. review in ) and young adults (approximately 21% of reported CCMs, from 18 to 30 years of age) (, cf.…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Introductionsupporting

confidence: 83%

Section: Introductionmentioning

confidence: 99%

“…review in ). Over the last three years, germline mutations in the SMARCE1 gene have been described in 20 unrelated families (, cf. review in ).…”

Section: Introductionmentioning

confidence: 99%