Loss-of-function mutations of BCOR are an independent marker of adverse outcomes in intensively treated patients with acute myeloid leukemia
Acute myeloid leukemia (AML) is characterized by recurrent genetic events. The BCL6 corepressor (BCOR) and its homolog, the BCL6 corepressor-like 1 (BCORL1), have been reported to be rare but recurrent mutations in AML. Previously, smaller studies have reported conflicting results regarding impacts...
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
26 April 2021
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| In: |
Cancers
Year: 2021, Jahrgang: 13, Heft: 9, Pages: 1-15 |
| ISSN: | 2072-6694 |
| DOI: | 10.3390/cancers13092095 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.3390/cancers13092095 Verlag, lizenzpflichtig, Volltext: https://www.mdpi.com/2072-6694/13/9/2095 
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| Verfasserangaben: | Jan-Niklas Eckardt, Sebastian Stasik, Michael Kramer, Christoph Röllig, Alwin Krämer, Sebastian Scholl, Andreas Hochhaus, Martina Crysandt, Tim H. Brümmendorf, Ralph Naumann, Björn Steffen, Volker Kunzmann, Hermann Einsele, Markus Schaich, Andreas Burchert, Andreas Neubauer, Kerstin Schäfer-Eckart, Christoph Schliemann, Stefan W. Krause, Regina Herbst, Mathias Hänel, Norbert Frickhofen, Richard Noppeney, Ulrich Kaiser, Claudia D. Baldus, Martin Kaufmann, Zdenek Rácil, Uwe Platzbecker, Wolfgang E. Berdel, Jiří Mayer, Hubert Serve, Carsten Müller-Tidow, Gerhard Ehninger, Friedrich Stölzel, Frank Kroschinsky, Johannes Schetelig, Martin Bornhäuser, Christian Thiede and Jan Moritz Middeke |
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| 245 | 1 | 0 | |a Loss-of-function mutations of BCOR are an independent marker of adverse outcomes in intensively treated patients with acute myeloid leukemia |c Jan-Niklas Eckardt, Sebastian Stasik, Michael Kramer, Christoph Röllig, Alwin Krämer, Sebastian Scholl, Andreas Hochhaus, Martina Crysandt, Tim H. Brümmendorf, Ralph Naumann, Björn Steffen, Volker Kunzmann, Hermann Einsele, Markus Schaich, Andreas Burchert, Andreas Neubauer, Kerstin Schäfer-Eckart, Christoph Schliemann, Stefan W. Krause, Regina Herbst, Mathias Hänel, Norbert Frickhofen, Richard Noppeney, Ulrich Kaiser, Claudia D. Baldus, Martin Kaufmann, Zdenek Rácil, Uwe Platzbecker, Wolfgang E. Berdel, Jiří Mayer, Hubert Serve, Carsten Müller-Tidow, Gerhard Ehninger, Friedrich Stölzel, Frank Kroschinsky, Johannes Schetelig, Martin Bornhäuser, Christian Thiede and Jan Moritz Middeke |
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| 520 | |a Acute myeloid leukemia (AML) is characterized by recurrent genetic events. The BCL6 corepressor (BCOR) and its homolog, the BCL6 corepressor-like 1 (BCORL1), have been reported to be rare but recurrent mutations in AML. Previously, smaller studies have reported conflicting results regarding impacts on outcomes. Here, we retrospectively analyzed a large cohort of 1529 patients with newly diagnosed and intensively treated AML. BCOR and BCORL1 mutations were found in 71 (4.6%) and 53 patients (3.5%), respectively. Frequently co-mutated genes were DNTM3A, TET2 and RUNX1. Mutated BCORL1 and loss-of-function mutations of BCOR were significantly more common in the ELN2017 intermediate-risk group. Patients harboring loss-of-function mutations of BCOR had a significantly reduced median event-free survival (HR = 1.464 (95%-Confidence Interval (CI): 1.005-2.134), p = 0.047), relapse-free survival (HR = 1.904 (95%-CI: 1.163-3.117), p = 0.01), and trend for reduced overall survival (HR = 1.495 (95%-CI: 0.990-2.258), p = 0.056) in multivariable analysis. Our study establishes a novel role for loss-of-function mutations of BCOR regarding risk stratification in AML, which may influence treatment allocation. | ||
| 650 | 4 | |a <i>BCOR</i> | |
| 650 | 4 | |a <i>BCORL1</i> | |
| 650 | 4 | |a acute myeloid leukemia | |
| 650 | 4 | |a loss-of-function | |
| 650 | 4 | |a risk stratification | |
| 650 | 4 | |a survival | |
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