Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1

  1. Sievers, Philipp ORCID logo
  2. Sill, Martin
  3. Blume, Christina
  4. Tauziede-Espariat, Arnault
  5. Schrimpf, Daniel
  6. Stichel, Damian
  7. Reuss, David E.
  8. Dogan, Helin
  9. Hartmann, Christian
  10. Mawrin, Christian
  11. Hasselblatt, Martin
  12. Stummer, Walter
  13. Schick, Uta
  14. Hench, Jürgen
  15. Frank, Stephan
  16. Ketter, Ralf
  17. Schweizer, Leonille
  18. Schittenhelm, Jens
  19. Puget, Stéphanie
  20. Brandner, Sebastian
  21. Jaunmuktane, Zane
  22. Küsters, Benno
  23. Abdullaev, Zied
  24. Pekmezci, Melike
  25. Snuderl, Matija
  26. Ratliff, Miriam
  27. Herold-Mende, Christel
  28. Unterberg, Andreas
  29. Aldape, Kenneth
  30. Ellison, David W.
  31. Wesseling, Pieter
  32. Reifenberger, Guido
  33. Wick, Wolfgang
  34. Perry, Arie
  35. Varlet, Pascale
  36. Pfister, Stefan M.
  37. Jones, David T. W.
  38. von Deimling, Andreas
  39. Sahm, Felix ORCID logo

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WeightNameValue
1000 Titel
  • Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1
1000 Autor/in
  1. Sievers, Philipp |
  2. Sill, Martin |
  3. Blume, Christina |
  4. Tauziede-Espariat, Arnault |
  5. Schrimpf, Daniel |
  6. Stichel, Damian |
  7. Reuss, David E. |
  8. Dogan, Helin |
  9. Hartmann, Christian |
  10. Mawrin, Christian |
  11. Hasselblatt, Martin |
  12. Stummer, Walter |
  13. Schick, Uta |
  14. Hench, Jürgen |
  15. Frank, Stephan |
  16. Ketter, Ralf |
  17. Schweizer, Leonille |
  18. Schittenhelm, Jens |
  19. Puget, Stéphanie |
  20. Brandner, Sebastian |
  21. Jaunmuktane, Zane |
  22. Küsters, Benno |
  23. Abdullaev, Zied |
  24. Pekmezci, Melike |
  25. Snuderl, Matija |
  26. Ratliff, Miriam |
  27. Herold-Mende, Christel |
  28. Unterberg, Andreas |
  29. Aldape, Kenneth |
  30. Ellison, David W. |
  31. Wesseling, Pieter |
  32. Reifenberger, Guido |
  33. Wick, Wolfgang |
  34. Perry, Arie |
  35. Varlet, Pascale |
  36. Pfister, Stefan M. |
  37. Jones, David T. W. |
  38. von Deimling, Andreas |
  39. Sahm, Felix |
1000 Erscheinungsjahr 2020
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2020-12-14
1000 Erschienen in
1000 Quellenangabe
  • 141(2):281-290
1000 Copyrightjahr
  • 2020
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1007/s00401-020-02247-2 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847462/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Clear cell meningioma represents an uncommon variant of meningioma that typically affects children and young adults. Although an enrichment of loss-of-function mutations in the SMARCE1 gene has been reported for this subtype, comprehensive molecular investigations are lacking. Here we describe a molecularly distinct subset of tumors (n = 31), initially identified through genome-wide DNA methylation screening among a cohort of 3093 meningiomas, of which most were diagnosed histologically as clear cell meningioma. This cohort was further supplemented by an additional 11 histologically diagnosed clear cell meningiomas for analysis (n = 42). Targeted DNA sequencing revealed SMARCE1 mutations in 33/34 analyzed samples, accompanied by a nuclear loss of expression determined via immunohistochemistry and a decreased SMARCE1 transcript expression in the tumor cells. Analysis of time to progression or recurrence of patients within the clear cell meningioma group (n = 14) in comparison to those with meningioma WHO grade 2 (n = 220) revealed a similar outcome and support the assignment of WHO grade 2 to these tumors. Our findings indicate the existence of a highly distinct epigenetic signature of clear cell meningiomas, separate from all other variants of meningiomas, with recurrent mutations in the SMARCE1 gene. This suggests that these tumors may arise from a different precursor cell population than the broad spectrum of the other meningioma subtypes.
1000 Sacherschließung
lokal DNA Methylation/genetics [MeSH]
lokal Disease Progression [MeSH]
lokal Meningioma/genetics [MeSH]
lokal DNA-Binding Proteins/genetics [MeSH]
lokal DNA Mutational Analysis [MeSH]
lokal Cohort Studies [MeSH]
lokal Male [MeSH]
lokal Meningioma/pathology [MeSH]
lokal Neoplasm Recurrence, Local [MeSH]
lokal Meningioma
lokal Child [MeSH]
lokal
lokal DNA methylation profile
lokal Mutation/genetics [MeSH]
lokal Female [MeSH]
lokal Brain Neoplasms/genetics [MeSH]
lokal Humans [MeSH]
lokal Treatment Outcome [MeSH]
lokal Genome-Wide Association Study [MeSH]
lokal DNA, Neoplasm/genetics [MeSH]
lokal Epigenesis, Genetic [MeSH]
lokal Immunohistochemistry [MeSH]
lokal Chromosomal Proteins, Non-Histone/genetics [MeSH]
lokal Brain tumor
lokal Original Paper
lokal Young Adult [MeSH]
lokal Clear cell
lokal Brain Neoplasms/pathology [MeSH]
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0003-3237-6021|https://frl.publisso.de/adhoc/uri/U2lsbCwgTWFydGlu|https://frl.publisso.de/adhoc/uri/Qmx1bWUsIENocmlzdGluYQ==|https://frl.publisso.de/adhoc/uri/VGF1emllZGUtRXNwYXJpYXQsIEFybmF1bHQ=|https://frl.publisso.de/adhoc/uri/U2NocmltcGYsIERhbmllbA==|https://frl.publisso.de/adhoc/uri/U3RpY2hlbCwgRGFtaWFu|https://frl.publisso.de/adhoc/uri/UmV1c3MsIERhdmlkIEUu|https://frl.publisso.de/adhoc/uri/RG9nYW4sIEhlbGlu|https://frl.publisso.de/adhoc/uri/SGFydG1hbm4sIENocmlzdGlhbg==|https://frl.publisso.de/adhoc/uri/TWF3cmluLCBDaHJpc3RpYW4=|https://frl.publisso.de/adhoc/uri/SGFzc2VsYmxhdHQsIE1hcnRpbg==|https://frl.publisso.de/adhoc/uri/U3R1bW1lciwgV2FsdGVy|https://frl.publisso.de/adhoc/uri/U2NoaWNrLCBVdGE=|https://frl.publisso.de/adhoc/uri/SGVuY2gsIErDvHJnZW4=|https://frl.publisso.de/adhoc/uri/RnJhbmssIFN0ZXBoYW4=|https://frl.publisso.de/adhoc/uri/S2V0dGVyLCBSYWxm|https://frl.publisso.de/adhoc/uri/U2Nod2VpemVyLCBMZW9uaWxsZQ==|https://frl.publisso.de/adhoc/uri/U2NoaXR0ZW5oZWxtLCBKZW5z|https://frl.publisso.de/adhoc/uri/UHVnZXQsIFN0w6lwaGFuaWU=|https://frl.publisso.de/adhoc/uri/QnJhbmRuZXIsIFNlYmFzdGlhbg==|https://frl.publisso.de/adhoc/uri/SmF1bm11a3RhbmUsIFphbmU=|https://frl.publisso.de/adhoc/uri/S8O8c3RlcnMsIEJlbm5v|https://frl.publisso.de/adhoc/uri/QWJkdWxsYWV2LCBaaWVk|https://frl.publisso.de/adhoc/uri/UGVrbWV6Y2ksIE1lbGlrZQ==|https://frl.publisso.de/adhoc/uri/U251ZGVybCwgTWF0aWph|https://frl.publisso.de/adhoc/uri/UmF0bGlmZiwgTWlyaWFt|https://frl.publisso.de/adhoc/uri/SGVyb2xkLU1lbmRlLCBDaHJpc3RlbA==|https://frl.publisso.de/adhoc/uri/VW50ZXJiZXJnLCBBbmRyZWFz|https://frl.publisso.de/adhoc/uri/QWxkYXBlLCBLZW5uZXRo|https://frl.publisso.de/adhoc/uri/RWxsaXNvbiwgRGF2aWQgVy4=|https://frl.publisso.de/adhoc/uri/V2Vzc2VsaW5nLCBQaWV0ZXI=|https://frl.publisso.de/adhoc/uri/UmVpZmVuYmVyZ2VyLCBHdWlkbw==|https://frl.publisso.de/adhoc/uri/V2ljaywgV29sZmdhbmc=|https://frl.publisso.de/adhoc/uri/UGVycnksIEFyaWU=|https://frl.publisso.de/adhoc/uri/VmFybGV0LCBQYXNjYWxl|https://frl.publisso.de/adhoc/uri/UGZpc3RlciwgU3RlZmFuIE0u|https://frl.publisso.de/adhoc/uri/Sm9uZXMsIERhdmlkIFQuIFcu|https://frl.publisso.de/adhoc/uri/dm9uIERlaW1saW5nLCBBbmRyZWFz|https://orcid.org/0000-0001-5441-1962
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1000 Erstellt am 2023-11-16T23:59:23.522+0100
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