Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations

Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a disti...

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Hauptverfasser: Kölsche, Christian (VerfasserIn) , Schrimpf, Daniel (VerfasserIn) , Sahm, Felix (VerfasserIn) , Reuss, David (VerfasserIn) , Hou, Yanghao (VerfasserIn) , Sturm, Dominik (VerfasserIn) , Ecker, Jonas (VerfasserIn) , Milde, Till (VerfasserIn) , Pfister, Stefan (VerfasserIn) , Mechtersheimer, Gunhild (VerfasserIn) , Jones, David T. W. (VerfasserIn) , Deimling, Andreas von (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 7 June 2018
In: Acta neuropathologica
Year: 2018, Jahrgang: 136, Heft: 2, Pages: 327-337
ISSN:1432-0533
DOI:10.1007/s00401-018-1871-6
Online-Zugang:Resolving-System, Volltext: https://doi.org/10.1007/s00401-018-1871-6
Verlag: https://link.springer.com/article/10.1007%2Fs00401-018-1871-6
Volltext
Verfasserangaben:Christian Koelsche, Martin Mynarek, Daniel Schrimpf, Luca Bertero, Jonathan Serrano, Felix Sahm, David E. Reuss, Yanghao Hou, Daniel Baumhoer, Christian Vokuhl, Uta Flucke, Iver Petersen, Wolfgang Brück, Stefan Rutkowski, Sandro Casavilca Zambrano, Juan Luis Garcia Leon, Rosdali Yesenia Diaz Coronado, Manfred Gessler, Oscar M. Tirado, Jaume Mora, Javier Alonso, Xavier Garcia del Muro, Manel Esteller, Dominik Sturm, Jonas Ecker, Till Milde, Stefan M. Pfister, Andrey Korshunov, Matija Snuderl, Gunhild Mechtersheimer, Ulrich Schüller, David T. W. Jones, Andreas von Deimling
Beschreibung
Zusammenfassung:Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a distinct methylation signature detected by array-based DNA-methylation profiling.
Beschreibung:Gesehen am 02.12.2019
Beschreibung:Online Resource
ISSN:1432-0533
DOI:10.1007/s00401-018-1871-6