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Loss-of-Function Mutations of BCOR Are an Independent Marker of Adverse Outcomes in Intensively Treated Patients with Acute Myeloid Leukemia

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 (+27 others)
2021 Cancers  

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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
more » ... ), 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.
doi:10.3390/cancers13092095 pmid:33926021 fatcat:eepsrjbd5bef5di2fzakt6xivy
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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, Jan Moritz Middeke. "Loss-of-Function Mutations of BCOR Are an Independent Marker of Adverse Outcomes in Intensively Treated Patients with Acute Myeloid Leukemia." Cancers 13.9 (2021)