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@ARTICLE{Eckardt:212453,
      author       = {J.-N. Eckardt and S. Stasik and C. Röllig and T. Sauer$^*$
                      and S. Scholl and A. Hochhaus and M. Crysandt and T. H.
                      Brümmendorf and R. Naumann and B. Steffen and V. Kunzmann
                      and H. Einsele and M. Schaich and A. Burchert and A.
                      Neubauer and K. Schäfer-Eckart and C. Schliemann and S. W.
                      Krause and R. Herbst and M. Hänel and M. Hanoun and U.
                      Kaiser and M. Kaufmann and Z. Rácil and J. Mayer and T.
                      Cerqueira and F. Kroschinsky and W. E. Berdel and H. Serve
                      and C. Müller-Tidow$^*$ and U. Platzbecker and C. D. Baldus
                      and J. Schetelig and T. Siepmann and M. Bornhäuser$^*$ and
                      J. M. Middeke and C. Thiede},
      title        = {{A}lterations of cohesin complex genes in acute myeloid
                      leukemia: differential co-mutations, clinical presentation
                      and impact on outcome.},
      journal      = {Blood cancer journal},
      volume       = {13},
      number       = {1},
      issn         = {2044-5385},
      address      = {London [u.a.]},
      publisher    = {Nature Publishing Group},
      reportid     = {DKFZ-2023-00170},
      pages        = {18},
      year         = {2023},
      abstract     = {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. Mutated RAD21 was associated
                      with NK, mutated EZH2, KRAS, CBL, and NPM1. Patients
                      harboring mutated STAG2 were older and presented with
                      decreased white blood cell, bone marrow and peripheral blood
                      blast counts. Overall, neither mutated STAG2, RAD21, SMC1A
                      nor SMC3 displayed any significant, independent effect on
                      clinical outcomes defined as complete remission, event-free,
                      relapse-free or overall survival. However, we found almost
                      complete mutual exclusivity of genetic alterations of
                      individual cohesin subunits. This mutual exclusivity may be
                      the basis for therapeutic strategies via synthetic lethality
                      in cohesin mutated AML.},
      cin          = {A360 / DD01 / A350},
      ddc          = {610},
      cid          = {I:(DE-He78)A360-20160331 / I:(DE-He78)DD01-20160331 /
                      I:(DE-He78)A350-20160331},
      pnm          = {311 - Zellbiologie und Tumorbiologie (POF4-311)},
      pid          = {G:(DE-HGF)POF4-311},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36693840},
      doi          = {10.1038/s41408-023-00790-1},
      url          = {https://inrepo02.dkfz.de/record/212453},
}