Amplification of the PLAG-family genes - PLAGL1 and PLAGL2 - is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification
Pediatric central nervous system (CNS) tumors represent the most common cause of cancer-related death in children aged 0-14 years. They differ from their adult counterparts, showing extensive clinical and molecular heterogeneity as well as a challenging histopathological spectrum that often impairs...
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| Hauptverfasser: | , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
January 2023
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| In: |
Acta neuropathologica
Year: 2023, Jahrgang: 145, Heft: 1, Pages: 49-69 |
| ISSN: | 1432-0533 |
| DOI: | 10.1007/s00401-022-02516-2 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1007/s00401-022-02516-2 Verlag, kostenfrei, Volltext: https://link.springer.com/article/10.1007/s00401-022-02516-2 
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| Verfasserangaben: | Michaela-Kristina Keck, Martin Sill, Andrea Wittmann, Piyush Joshi, Damian Stichel, Pengbo Beck, Konstantin Okonechnikow, Philipp Sievers, Annika K. Wefers, Federico Roncaroli, Shivaram Avula, Martin G. McCabe, James T. Hayden, Pieter Wesseling, Ingrid Øra, Monica Nistér, Mariëtte E.G. Kranendonk, Bastiaan B.J. Tops, Michal Zapotocky, Josef Zamecnik, Alexandre Vasiljevic, Tanguy Fenouil, David Meyronet, Katja von Hoff, Ulrich Schüller, Hugues Loiseau, Dominique Figarella-Branger, Christof M. Kramm, Dominik Sturm, David Scheie, Tuomas Rauramaa, Jouni Pesola, Johannes Gojo, Christine Haberler, Sebastian Brandner, Tom Jacques, Alexandra Sexton Oates, Richard Saffery, Ewa Koscielniak, Suzanne J. Baker, Stephen Yip, Matija Snuderl, Nasir Ud Din, David Samuel, Kathrin Schramm, Mirjam Blattner-Johnson, Florian Selt, Jonas Ecker, Till Milde, Andreas von Deimling, Andrey Korshunov, Arie Perry, Stefan M. Pfister, Felix Sahm, David A. Solomon, David T.W. Jones |
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| 245 | 1 | 0 | |a Amplification of the PLAG-family genes - PLAGL1 and PLAGL2 - is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification |c Michaela-Kristina Keck, Martin Sill, Andrea Wittmann, Piyush Joshi, Damian Stichel, Pengbo Beck, Konstantin Okonechnikow, Philipp Sievers, Annika K. Wefers, Federico Roncaroli, Shivaram Avula, Martin G. McCabe, James T. Hayden, Pieter Wesseling, Ingrid Øra, Monica Nistér, Mariëtte E.G. Kranendonk, Bastiaan B.J. Tops, Michal Zapotocky, Josef Zamecnik, Alexandre Vasiljevic, Tanguy Fenouil, David Meyronet, Katja von Hoff, Ulrich Schüller, Hugues Loiseau, Dominique Figarella-Branger, Christof M. Kramm, Dominik Sturm, David Scheie, Tuomas Rauramaa, Jouni Pesola, Johannes Gojo, Christine Haberler, Sebastian Brandner, Tom Jacques, Alexandra Sexton Oates, Richard Saffery, Ewa Koscielniak, Suzanne J. Baker, Stephen Yip, Matija Snuderl, Nasir Ud Din, David Samuel, Kathrin Schramm, Mirjam Blattner-Johnson, Florian Selt, Jonas Ecker, Till Milde, Andreas von Deimling, Andrey Korshunov, Arie Perry, Stefan M. Pfister, Felix Sahm, David A. Solomon, David T.W. Jones |
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| 500 | |a Online veröffentlicht: 27. November 2022 | ||
| 500 | |a Gesehen am 06.12.2023 | ||
| 520 | |a Pediatric central nervous system (CNS) tumors represent the most common cause of cancer-related death in children aged 0-14 years. They differ from their adult counterparts, showing extensive clinical and molecular heterogeneity as well as a challenging histopathological spectrum that often impairs accurate diagnosis. Here, we use DNA methylation-based CNS tumor classification in combination with copy number, RNA-seq, and ChIP-seq analysis to characterize a newly identified CNS tumor type. In addition, we report histology, patient characteristics, and survival data in this tumor type. We describe a biologically distinct pediatric CNS tumor type (n = 31 cases) that is characterized by focal high-level amplification and resultant overexpression of either PLAGL1 or PLAGL2, and an absence of recurrent genetic alterations characteristic of other pediatric CNS tumor types. ... | ||
| 650 | 4 | |a Molecular neuro-oncology | |
| 650 | 4 | |a Pediatric cancer | |
| 650 | 4 | |a PLAGL1 | |
| 650 | 4 | |a PLAGL2 | |
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| 773 | 0 | 8 | |i Enthalten in |t Acta neuropathologica |d Berlin : Springer, 1961 |g 145(2023), 1, Seite 49-69 |h Online-Ressource |w (DE-627)253389666 |w (DE-600)1458410-4 |w (DE-576)072283092 |x 1432-0533 |7 nnas |a Amplification of the PLAG-family genes - PLAGL1 and PLAGL2 - is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification |
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| 787 | 0 | 8 | |i Errata |a Keck, Michaela-Kristina, 1982 - |t Correction to: Amplification of the PLAG-family genes - PLAGL1 and PLAGL2 - is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification |d 2023 |w (DE-627)1872148247 |
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