Loss of SMARCE1 expression is a specific diagnostic marker of clear cell meningioma: a comprehensive immunophenotypical and molecular analysis.
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.
['Tauziede-Espariat|Arnault|A|0000-0002-9795-5828', 'Parfait|Béatrice|B|', 'Besnard|Aurore|A|', 'Lacombe|Joëlle|J|', 'Pallud|Johan|J|', 'Tazi|Sanaa|S|', 'Puget|Stéphanie|S|', 'Lot|Guillaume|G|', 'Terris|Benoît|B|', 'Cohen|Joëlle|J|', 'Vidaud|Michel|M|', 'Figarella-Branger|Dominique|D|', 'Monnien|Franck|F|', 'Polivka|Marc|M|', 'Adle-Biassette|Homa|H|', 'Varlet|Pascale|P|']
D000293:Adolescent D000328:Adult D000368:Aged D000906:Antibodies D014408:Biomarkers, Tumor D002648:Child D002868:Chromosomal Proteins, Non-Histone D004268:DNA-Binding Proteins D005260:Female D005838:Genotype D006801:Humans D007150:Immunohistochemistry D008297:Male D008577:Meningeal Neoplasms D008579:Meningioma D008875:Middle Aged D012189:Retrospective Studies D055815:Young Adult
SMARCE1 clear cell meningioma microcystic meningioma