Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity

  1. Schweizer, Leonille ORCID logo
  2. Thierfelder, Felix
  3. Thomas, Christian
  4. Soschinski, Patrick
  5. Suwala, Abigail
  6. Stichel, Damian
  7. Wefers, Annika K.
  8. Wessels, Lars
  9. Misch, Martin
  10. Kim, Hee-yeong
  11. Jödicke, Ruben
  12. Teichmann, Daniel
  13. Kaul, David
  14. Kahn, Johannes
  15. Bockmayr, Michael
  16. Hasselblatt, Martin
  17. Younsi, Alexander
  18. Unterberg, Andreas
  19. Knie, Bettina
  20. Walter, Jan
  21. Al Safatli, Diaa
  22. May, Sven-Axel
  23. Jödicke, Andreas
  24. Ntoulias, Georgios
  25. Moskopp, Dag
  26. Vajkoczy, Peter
  27. Heppner, Frank L.
  28. Capper, David
  29. Hartmann, Wolfgang
  30. Hartmann, Christian
  31. von Deimling, Andreas
  32. Reuss, David E.
  33. Schöler, Anne
  34. Koch, Arend

Download
s00401-020-02218-7.pdf 7,89MB
WeightNameValue
1000 Titel
  • Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity
1000 Autor/in
  1. Schweizer, Leonille |
  2. Thierfelder, Felix |
  3. Thomas, Christian |
  4. Soschinski, Patrick |
  5. Suwala, Abigail |
  6. Stichel, Damian |
  7. Wefers, Annika K. |
  8. Wessels, Lars |
  9. Misch, Martin |
  10. Kim, Hee-yeong |
  11. Jödicke, Ruben |
  12. Teichmann, Daniel |
  13. Kaul, David |
  14. Kahn, Johannes |
  15. Bockmayr, Michael |
  16. Hasselblatt, Martin |
  17. Younsi, Alexander |
  18. Unterberg, Andreas |
  19. Knie, Bettina |
  20. Walter, Jan |
  21. Al Safatli, Diaa |
  22. May, Sven-Axel |
  23. Jödicke, Andreas |
  24. Ntoulias, Georgios |
  25. Moskopp, Dag |
  26. Vajkoczy, Peter |
  27. Heppner, Frank L. |
  28. Capper, David |
  29. Hartmann, Wolfgang |
  30. Hartmann, Christian |
  31. von Deimling, Andreas |
  32. Reuss, David E. |
  33. Schöler, Anne |
  34. Koch, Arend |
1000 Erscheinungsjahr 2020
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2020-09-14
1000 Erschienen in
1000 Quellenangabe
  • 140(6):893-906
1000 Copyrightjahr
  • 2020
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1007/s00401-020-02218-7 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666289/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Paragangliomas/pheochromocytomas are rare neuroendocrine tumors that arise from the adrenal gland or ganglia at various sites throughout the body. They display a remarkable diversity of driver alterations and are associated with germline mutations in up to 40% of the cases. Comprehensive molecular profiling of abdomino-thoracic paragangliomas revealed four molecularly defined and clinically relevant subtypes. Paragangliomas of the cauda equina region are considered to belong to one of the defined molecular subtypes, but a systematic molecular analysis has not yet been performed. In this study, we analyzed genome-wide DNA methylation profiles of 57 cauda equina paragangliomas and show that these tumors are epigenetically distinct from non-spinal paragangliomas and other tumors. In contrast to paragangliomas of other sites, chromosomal imbalances are widely lacking in cauda equina paragangliomas. Furthermore, RNA and DNA exome sequencing revealed that frequent genetic alterations found in non-spinal paragangliomas-including the prognostically relevant SDH mutations-are absent in cauda equina paragangliomas. Histologically, cauda equina paragangliomas show frequently gangliocytic differentiation and strong immunoreactivity to pan-cytokeratin and cytokeratin 18, which is not common in paragangliomas of other sites. None of our cases had a familial paraganglioma syndrome. Tumors rarely recurred (9%) or presented with multiple lesions within the spinal compartment (7%), but did not metastasize outside the CNS. In summary, we show that cauda equina paragangliomas represent a distinct, sporadic tumor entity defined by a unique clinical and morpho-molecular profile.
1000 Sacherschließung
lokal SDHB
lokal Head and neck
lokal Original Paper
lokal Paraganglioma
lokal DNA methylation
lokal GATA3
lokal Cauda equina
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0002-4649-2587|https://frl.publisso.de/adhoc/uri/VGhpZXJmZWxkZXIsIEZlbGl4|https://frl.publisso.de/adhoc/uri/VGhvbWFzLCBDaHJpc3RpYW4=|https://frl.publisso.de/adhoc/uri/U29zY2hpbnNraSwgUGF0cmljaw==|https://frl.publisso.de/adhoc/uri/U3V3YWxhLCBBYmlnYWls|https://frl.publisso.de/adhoc/uri/U3RpY2hlbCwgRGFtaWFu|https://frl.publisso.de/adhoc/uri/V2VmZXJzLCBBbm5pa2EgSy4=|https://frl.publisso.de/adhoc/uri/V2Vzc2VscywgTGFycw==|https://frl.publisso.de/adhoc/uri/TWlzY2gsIE1hcnRpbg==|https://frl.publisso.de/adhoc/uri/S2ltLCBIZWUteWVvbmc=|https://frl.publisso.de/adhoc/uri/SsO2ZGlja2UsIFJ1YmVu|https://frl.publisso.de/adhoc/uri/VGVpY2htYW5uLCBEYW5pZWw=|https://frl.publisso.de/adhoc/uri/S2F1bCwgRGF2aWQ=|https://frl.publisso.de/adhoc/uri/S2FobiwgSm9oYW5uZXM=|https://frl.publisso.de/adhoc/uri/Qm9ja21heXIsIE1pY2hhZWw=|https://frl.publisso.de/adhoc/uri/SGFzc2VsYmxhdHQsIE1hcnRpbg==|https://frl.publisso.de/adhoc/uri/WW91bnNpLCBBbGV4YW5kZXI=|https://frl.publisso.de/adhoc/uri/VW50ZXJiZXJnLCBBbmRyZWFz|https://frl.publisso.de/adhoc/uri/S25pZSwgQmV0dGluYQ==|https://frl.publisso.de/adhoc/uri/V2FsdGVyLCBKYW4=|https://frl.publisso.de/adhoc/uri/QWwgU2FmYXRsaSwgRGlhYQ==|https://frl.publisso.de/adhoc/uri/TWF5LCBTdmVuLUF4ZWw=|https://frl.publisso.de/adhoc/uri/SsO2ZGlja2UsIEFuZHJlYXM=|https://frl.publisso.de/adhoc/uri/TnRvdWxpYXMsIEdlb3JnaW9z|https://frl.publisso.de/adhoc/uri/TW9za29wcCwgRGFn|https://frl.publisso.de/adhoc/uri/VmFqa29jenksIFBldGVy|https://frl.publisso.de/adhoc/uri/SGVwcG5lciwgRnJhbmsgTC4=|https://frl.publisso.de/adhoc/uri/Q2FwcGVyLCBEYXZpZA==|https://frl.publisso.de/adhoc/uri/SGFydG1hbm4sIFdvbGZnYW5n|https://frl.publisso.de/adhoc/uri/SGFydG1hbm4sIENocmlzdGlhbg==|https://frl.publisso.de/adhoc/uri/dm9uIERlaW1saW5nLCBBbmRyZWFz|https://frl.publisso.de/adhoc/uri/UmV1c3MsIERhdmlkIEUu|https://frl.publisso.de/adhoc/uri/U2Now7ZsZXIsIEFubmU=|https://frl.publisso.de/adhoc/uri/S29jaCwgQXJlbmQ=
1000 Hinweis
  • DeepGreen-ID: fa8a64cb579441719938dd9dd404f802 ; metadata provieded by: DeepGreen (https://www.oa-deepgreen.de/api/v1/), LIVIVO search scope life sciences (http://z3950.zbmed.de:6210/livivo), Crossref Unified Resource API (https://api.crossref.org/swagger-ui/index.html), to.science.api (https://frl.publisso.de/), ZDB JSON-API (beta) (https://zeitschriftendatenbank.de/api/), lobid - Dateninfrastruktur für Bibliotheken (https://lobid.org/resources/search)
1000 Label
1000 Dateien
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6466750.rdf
1000 Erstellt am 2023-11-17T02:42:21.933+0100
1000 Erstellt von 322
1000 beschreibt frl:6466750
1000 Zuletzt bearbeitet Fri Dec 01 04:48:01 CET 2023
1000 Objekt bearb. Fri Dec 01 04:48:01 CET 2023
1000 Vgl. frl:6466750
1000 Oai Id
  1. oai:frl.publisso.de:frl:6466750 |
1000 Sichtbarkeit Metadaten public
1000 Sichtbarkeit Daten public
1000 Gegenstand von

View source