title: SMARCE1 mutation screening in classification of clear cell meningiomas.
abstract: OBJECTIVE
  Clear cell meningioma (CCM) is a rare subtype of meningioma and shows not only unusual histology, but also unique clinical features. Recently, SMARCE1 mutations have been shown to cause spinal and cranial CCMs. We present 12 cases which were diagnosed with CCM in a single institution between 1997 and 2014, and investigate their SMARCE1 mutation status.
  
  
  RESULTS
  To investigate the SMARCE1 mutation status of these tumours, we used a combination of Sanger sequencing and multiplex ligation-dependent probe amplification analysis and also performed SMARCE1 immunohistochemical staining. We found both SMARCE1 mutational hits, including novel SMARCE1 mutations, in six of eight tested patients. Immunohistochemical analysis showed loss of SMARCE1 protein staining in all but two cases. Two individuals who were diagnosed originally with CCM were negative for SMARCE1 mutations, but tested positive for NF2 mutations. As a result, these two tumours were re-analysed and eventually reclassified, as a microcystic and a mixed pattern of meningothelial meningioma with focal clear cell areas, respectively.
  
  
  CONCLUSIONS
  These results expand the spectrum of pathogenic variants in SMARCE1 and show that mutation screening can help to facilitate meningioma classification. This may have implications for prognosis and future clinical management of patients, as CCMs are classed as grade II tumours, while microcystic and meningothelial meningiomas are classed as grade I.
authors.affiliation: Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St Mary's Hospital, University of Manchester, Manchester, UK.
authors.forename: Miriam J
authors.identifier: http://orcid.org/0000-0002-3184-0817
authors.initials: MJ
authors.lastname: Smith
authors.affiliation: Department of Pathology, Ewha Womans University School of Medicine, Seoul, Korea.
authors.forename: Soomin
authors.initials: S
authors.lastname: Ahn
authors.affiliation: Department of Neurosurgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Jung-Il
authors.initials: JI
authors.lastname: Lee
authors.affiliation: Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St Mary's Hospital, University of Manchester, Manchester, UK.
authors.forename: Michael
authors.initials: M
authors.lastname: Bulman
authors.affiliation: Department of Cellular Pathology and Greater Manchester Neurosciences Centre, Salford Royal Hospitals NHS Foundation Trust, Salford, UK.
authors.forename: Daniel du
authors.initials: DD
authors.lastname: Plessis
authors.affiliation: Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Yeon-Lim
authors.initials: YL
authors.lastname: Suh
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008577:Meningeal Neoplasms / Q000145:classification* / Q000235:genetics* / Q000473:pathology; D008579:Meningioma / Q000145:classification* / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction; D055815:Young Adult
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C504738:SMARCE1 protein, human
keywords: 
  SMARCE1
  ; clear cell; meningioma