Jan-Niklas Eckardt, Sebastian Stasik, Christoph Röllig, Tim Sauer, 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, Maher Hanoun, Ulrich Kaiser, Martin Kaufmann, Zdenek Rácil, Jiri Mayer, Tiago Cerqueira, Frank Kroschinsky, Wolfgang E Berdel, Hubert Serve, Carsten Müller-Tidow, Uwe Platzbecker, Claudia D Baldus, Johannes Schetelig, Timo Siepmann, Martin Bornhäuser, Jan Moritz Middeke, Christian Thiede
Functional perturbations of the cohesin complex with subsequent changes in chromatin structure and replication are reported in a multitude of cancers including acute myeloid leukemia (AML). Mutations of its STAG2 subunit may predict unfavorable risk as recognized by the 2022 European Leukemia Net recommendations, but the underlying evidence is limited by small sample sizes and conflicting observations regarding clinical outcomes, as well as scarce information on other cohesion complex subunits. We retrospectively analyzed data from a multi-center cohort of 1615 intensively treated AML patients and identified distinct co-mutational patters for mutations of STAG2, which were associated with normal karyotypes (NK) and concomitant mutations in IDH2, RUNX1, BCOR, ASXL1, and SRSF2...
January 24, 2023: Blood Cancer Journal