<i><scp>SMARCE</scp>1</i> mutation screening in classification of clear cell meningiomas

Smith, Miriam J.; Ahn, Soomin; Lee, Jung-Il; Bulman, Michael P.; Plessis, Daniel du; Suh, Yeon‐Lim

doi:10.1111/his.13135

Cited by 29 publications

(25 citation statements)

References 23 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%

“…These results confirm the data of Smith et al . in a smaller series of syndromic and sporadic CCMs . Our study constitutes the first proof of the diagnostic value of the loss of SMARCE1 expression by validation on a cohort of 320 adult and pediatric meningiomas of various grades and subtypes.…”

Section: Discussionmentioning

confidence: 57%

“…Smith et al . have showed over the past years the presence of SMARCE1 alterations in familial cases of CCM . Moreover, given the paucity of adjuvant treatment administered in our retrospectively discovery cohort, strong conclusions about prognosis cannot be made.…”

Section: Discussionmentioning

confidence: 85%

“…Smith et al . tested 8 cases and identified 6 bi‐allelic alterations including 3 new mutations in exons 3 and 10 . In this retrospective monocentric Asian cohort, a good correlation was found between immunohistochemical loss of SMARCE1 and SMARCE1 molecular alterations.…”

Section: Introductionmentioning

confidence: 79%

“…Based on our extensive literature review of 234 CCMs (cf. Table S1 Supporting Information), we estimate that 45% of patients with CCM had tumor recurrence (local in 84%, local and other distant locations in 11%, and only distant location in 5% of reported cases) during the mean follow‐up of 45 months (, cf. review in ).…”

Section: Discussionmentioning

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: Discussionmentioning

confidence: 57%

Section: Discussionmentioning

confidence: 85%

Section: Introductionmentioning

confidence: 79%

Section: Discussionmentioning

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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The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study

Shoakazemi

Hewitt

Smith

et al. 2020

American J of Med Genetics Pt A

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Clear cell meningioma (CCM) is a rare variant of meningioma. In recent years, an association between cranial and spinal CCMs and germline loss of function mutations in the SMARCE1 gene (SWI/SNF chromatin remodeling complex subunit gene) has been discovered. We report a family with an incidental large spinal clear cell meningioma in a young adult following reflex screening for a germline loss of function pathogenic variant (PV) in the SMARCE1 gene. The index patient's mother and maternal grandfather were both also tested positive presymptomatically for SMARCE1. His mother developed intracranial and spinal meningiomas and his maternal grandfather developed a spinal CCM 4 years following a clear spinal MRI scan which required surgical excision. In this report we particularly emphasize the importance of genetic counseling and screening in siblings, parents and offspring of patients who are diagnosed with intracranial or spinal CCM in the context of SMARCE1 PVs. We recommend brain and spine Imaging screening of asymptomatic SMARCE1 PV carriers at least every 3 years, even if the baseline scan did not show any tumors.

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Emerging Meningioma Therapies I: Precision Medicine, Targeted Therapies, and Mutation-Specific Approaches

Roque

Omuro

2020

Meningiomas

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SMARCE1 mutation screening in classification of clear cell meningiomas

Cited by 29 publications

References 23 publications

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

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

The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study

Emerging Meningioma Therapies I: Precision Medicine, Targeted Therapies, and Mutation-Specific Approaches

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