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@ARTICLE{Bill:305540,
      author       = {M. Bill$^*$ and J.-N. Eckardt and K. Döhner and M.-A.
                      Röhnert and C. Rausch and K. H. Metzeler and K. Spiekermann
                      and S. Stasik and A. A. Wurm$^*$ and T. Sauer$^*$ and S.
                      Scholl and U. Schnetzke and A. Hochhaus and M. Crysandt and
                      T. H. Brümmendorf and U. Krug and B. Wörmann and H.
                      Einsele and W. Hiddemann and D. Görlich and C. Sauerland
                      and B. Steffen and A. Neubauer and A. Burchert and K.
                      Schäfer-Eckart and W. E. Berdel and C. Schliemann and S. W.
                      Krause and M. Hänel and M. Hanoun and M. Kaufmann and L.
                      Fransecky and J. Braess and J. Schetelig and J. M. Middeke
                      and L. Bullinger and M. Heuser and F. Thol and H. Serve and
                      C. D. Baldus and U. Platzbecker and C. Müller-Tidow and J.
                      Válka and J. Šrámek and B. Weinbergerova and J. Mayer and
                      P.-Y. Dumas and S. Bertoli and E. Delabesse and C. Récher
                      and A. Pigneux and T. Herold and A. Ganser and H. Döhner
                      and M. Bornhäuser$^*$ and C. Thiede and C. Röllig},
      title        = {{D}ifferential prognostic impact of myelodysplasia-related
                      gene mutations in a {E}uropean cohort of 4978 intensively
                      treated {AML} patients.},
      journal      = {Leukemia},
      volume       = {nn},
      issn         = {0887-6924},
      address      = {London},
      publisher    = {Springer Nature},
      reportid     = {DKFZ-2025-02214},
      pages        = {nn},
      year         = {2025},
      note         = {epub},
      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.},
      cin          = {DD01 / A360},
      ddc          = {610},
      cid          = {I:(DE-He78)DD01-20160331 / I:(DE-He78)A360-20160331},
      pnm          = {311 - Zellbiologie und Tumorbiologie (POF4-311)},
      pid          = {G:(DE-HGF)POF4-311},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41145671},
      doi          = {10.1038/s41375-025-02781-6},
      url          = {https://inrepo02.dkfz.de/record/305540},
}