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@ARTICLE{Oksa:302825,
      author       = {L. Oksa and S. Moisio and K. Maqbool and R. Kramer and A.
                      Nikkilä and B. Jayasingha and A. Mäkinen and H.
                      Foroughi-Asl and S. Rounioja and J. Suhonen and O. Krali and
                      M. Voutilainen and M. Lahnalampi and K. Vepsäläinen and S.
                      Huang and J. Duque-Afonso and J. Hauer$^*$ and J. Nordlund
                      and V. Wirta and O. Lohi and M. Heinäniemi},
      title        = {{G}enomic determinants of therapy response in
                      {ETV}6::{RUNX}1 leukemia.},
      journal      = {Leukemia},
      volume       = {39},
      number       = {9},
      issn         = {0887-6924},
      address      = {London},
      publisher    = {Springer Nature},
      reportid     = {DKFZ-2025-01365},
      pages        = {2125-2139},
      year         = {2025},
      note         = {2025 Sep;39(9):2125-2139},
      abstract     = {ETV6::RUNX1 leukemia is the second most common subtype of
                      childhood B cell acute lymphoblastic leukemia (B-ALL).
                      Although it generally has a low relapse risk, a significant
                      proportion of B-ALL relapses occur within this subtype due
                      to its relatively high incidence. Measurable residual
                      disease at the end of induction therapy is a
                      well-established biomarker predicting treatment outcomes,
                      while no genomic biomarkers are routinely applied in
                      clinics. In this study, we used multiomic data from
                      ETV6::RUNX1 leukemias to identify genomic features
                      predictive of therapy response at disease presentation. In
                      the deeply characterized sub-cohort we discovered that
                      fast-responding cases frequently exhibited the APOBEC
                      mutational signature and the gene expression signature of
                      high cell cycle activity. In contrast, rearrangements of IGK
                      genes were more frequent in slow responders. Additionally,
                      response-related mutations were identified in
                      transcriptional regulators and tumor suppressor genes
                      (INTS1, NF1, TP53). Copy number analysis revealed that fast
                      responders harbored more frequent deletions of chr12 p-arm,
                      leading to transcriptomic changes affecting genes associated
                      with induction therapy response (KRAS, FKBP4), while a
                      shorter gain in chr12 was more common in slow responders.
                      The identified genetic and transcriptomic markers of
                      treatment sensitivity pave the way for improved disease
                      classification at presentation, potentially improving
                      clinical outcomes.},
      cin          = {MU01},
      ddc          = {610},
      cid          = {I:(DE-He78)MU01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40634509},
      doi          = {10.1038/s41375-025-02683-7},
      url          = {https://inrepo02.dkfz.de/record/302825},
}