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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| Main Authors: | , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
7 June 2018
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| In: |
Acta neuropathologica
Year: 2018, Volume: 136, Issue: 2, Pages: 327-337 |
| ISSN: | 1432-0533 |
| DOI: | 10.1007/s00401-018-1871-6 |
| Online Access: | Resolving-System, Volltext: https://doi.org/10.1007/s00401-018-1871-6 Verlag: https://link.springer.com/article/10.1007%2Fs00401-018-1871-6 |
| Author Notes: | 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 |
| Summary: | 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. |
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| Item Description: | Gesehen am 02.12.2019 |
| Physical Description: | Online Resource |
| ISSN: | 1432-0533 |
| DOI: | 10.1007/s00401-018-1871-6 |