Differential prognostic impact of myelodysplasia-related gene mutations in a European cohort of 4978 intensively treated AML patients

Research output: Contribution to journal › Research article › Contributed › peer-review

Contributors

  • Marius Bill - , Department of Internal Medicine I, National Center for Tumor Diseases Dresden (NCT/UCC), Mildred Scheel Early Career Center, German Cancer Consortium (DKTK) Partner Site Dresden (Author)
  • Jan-Niklas Eckardt - , Department of Internal Medicine I (Author)
  • Konstanze Döhner - , Ulm University Medical Center (Author)
  • Maximillian-Alexander Röhnert - , Department of internal Medicine I (Author)
  • Christian Rausch - , Hospital of the Ludwig-Maximilians-University (LMU) Munich (Author)
  • Klaus H Metzeler - , University Hospital Leipzig (Author)
  • Karsten Spiekermann - , Hospital of the Ludwig-Maximilians-University (LMU) Munich (Author)
  • Sebastian Stasik - , Department of Internal Medicine I (Author)
  • Alexander A Wurm - , National Center for Tumor Diseases Dresden, National Center for Tumor Diseases Dresden (NCT/UCC), Mildred Scheel Early Career Center, German Cancer Consortium (DKTK) Partner Site Dresden (Author)
  • Tim Sauer - , German Cancer Consortium (DKTK) Core Center Heidelberg (Author)
  • Sebastian Scholl - , Jena University Hospital (Author)
  • Ulf Schnetzke - , Jena University Hospital (Author)
  • Andreas Hochhaus - , Jena University Hospital (Author)
  • Martina Crysandt - , University Hospital Aachen (Author)
  • Tim H Brümmendorf - , University Hospital Aachen (Author)
  • Utz Krug - , DKMS Collection Center gGmbH (Author)
  • Bernhard Wörmann - , Charité – Universitätsmedizin Berlin (Author)
  • Hermann Einsele - , University Hospital of Würzburg (Author)
  • Wolfgang Hiddemann - , Hospital of the Ludwig-Maximilians-University (LMU) Munich (Author)
  • Dennis Görlich - , University of Münster (Author)
  • Cristina Sauerland - , University of Münster (Author)
  • Björn Steffen - , University Hospital Frankfurt (Author)
  • Andreas Neubauer - , University of Marburg (Author)
  • Andreas Burchert - , University of Marburg (Author)
  • Kerstin Schäfer-Eckart - , Paracelsus Medical University Nuremberg (Author)
  • Wolfgang E Berdel - , University Hospital Münster (Author)
  • Christoph Schliemann - , University Hospital Münster (Author)
  • Stefan W Krause - , University Hospital at the Friedrich-Alexander University Erlangen-Nürnberg (Author)
  • Mathias Hänel - , Klinikum Chemnitz gGmbH (Author)
  • Maher Hanoun - , University Hospital Essen (Author)
  • Martin Kaufmann - , Robert Bosch Krankenhaus Stuttgart (Author)
  • Lars Fransecky - , University Hospital Schleswig-Holstein Campus Kiel (Author)
  • Jan Braess - , Hospital of the Brothers of Mercy Regensburg (Author)
  • Johannes Schetelig - , Department of Internal Medicine I (Author)
  • Jan Moritz Middeke - , Department of Internal Medicine I (Author)
  • Lars Bullinger - , Charité – Universitätsmedizin Berlin (Author)
  • Michael Heuser - , Hannover Medical School (MHH) (Author)
  • Felicitas Thol - , Hannover Medical School (MHH) (Author)
  • Hubert Serve - , University Hospital Frankfurt (Author)
  • Claudia D Baldus - , University Hospital Schleswig-Holstein Campus Kiel (Author)
  • Uwe Platzbecker - , University Hospital Leipzig (Author)
  • Carsten Müller-Tidow - , German Cancer Consortium (DKTK) Core Center Heidelberg (Author)
  • Jan Válka - , Institute of Hematology and Blood Transfusion (Author)
  • Jiří Šrámek - , Charles University Prague (Author)
  • Barbora Weinbergerova - , University Hospital Brno (Author)
  • Jiri Mayer - , University Hospital Brno (Author)
  • Pierre-Yves Dumas - , University Hospital of Bordeaux (Author)
  • Sarah Bertoli - , IUCT-Oncopole (Author)
  • Eric Delabesse - , IUCT-Oncopole (Author)
  • Christian Récher - , IUCT-Oncopole (Author)
  • Arnaud Pigneux - , University Hospital of Bordeaux (Author)
  • Tobias Herold - , Munich Municipal Hospital Group (Author)
  • Arnold Ganser - , Hannover Medical School (MHH) (Author)
  • Hartmut Döhner - , Ulm University Medical Center (Author)
  • Martin Bornhäuser - , Department of Internal Medicine I, University Cancer Centre Dresden, Mildred Scheel Early Career Center, German Cancer Consortium (DKTK) Partner Site Dresden (Author)
  • Christian Thiede - , Department of Internal Medicine I (Author)
  • Christoph Röllig - , Department of Internal Medicine I (Author)

Abstract

In the European LeukemiaNet (ELN) 2022 recommendations, myelodysplasia-related (MR) gene mutations were classified as a novel adverse prognostic category for intensively treated acute myeloid leukemia (AML). To assess the prognostic impact of individual MR genes within the ELN, clinical, cytogenetic, and molecular data from 4,978 intensively treated AML patients were analyzed. Remission rates and survival outcomes were evaluated. For analyses in context of ELN2022 classification, patients carrying an MR mutation were excluded from the adverse group and analyzed separately; those with co-occurring favorable or intermediate features remained in their respective groups. Overall, 1698 patients (34.1%) harbored at least one MR mutation. Lower complete remission rates were observed in MR-mutated cases (65.7% vs 77.7%; p < 0.001) along with shorter event-free (HR 1.45; p < 0.001), relapse-free (HR 1.33; p < 0.001), and overall survival (HR 1.45; p < 0.001) were recorded. Gene-specific prognostic patterns emerged: ASXL1, RUNX1, SF3B1, and U2AF1 mutations associated with adverse risk-like outcomes; SRSF2 and STAG2 aligned with intermediate-risk; BCOR, EZH2, and ZRSR2 did not differ significantly from intermediate or adverse risk. These findings from a large cooperative cohort highlight prognostic heterogeneity among MR mutations and suggest that SRSF2 and STAG2 mutations are associated with less adverse risk patterns, comparable to intermediate-risk.

Details

Original languageEnglish
Pages (from-to)63-71
Number of pages9
JournalLeukemia
Volume40
Issue number1
Publication statusPublished - Jan 2026
Peer-reviewedYes

External IDs

PubMedCentral PMC12789037
Scopus 105020072033

Keywords

Keywords

  • Humans, Male, Prognosis, Mutation, Female, Leukemia, Myeloid, Acute/genetics, Middle Aged, Aged, Myelodysplastic Syndromes/genetics, Adult, Aged, 80 and over, Europe/epidemiology, Young Adult, Adolescent, Cohort Studies, Survival Rate, Biomarkers, Tumor/genetics, Serine-Arginine Splicing Factors/genetics, Follow-Up Studies