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@ARTICLE{Weichenhan:292145,
      author       = {D. Weichenhan$^*$ and A. Riedel$^*$ and E. Sollier$^*$ and
                      U. Toprak$^*$ and J. Hey$^*$ and K. Breuer$^*$ and J. A.
                      Wierzbinska$^*$ and A. Touzart$^*$ and P. Lutsik$^*$ and M.
                      Bähr$^*$ and A. Östlund and T. Nilsson and S. Jacobsson
                      and A. Waraky and Y. L. Behrens and G. Göhring and B.
                      Schlegelberger and C. Steinek and H. Harz and H. Leonhardt
                      and A. Dolnik and D. Reinhardt and L. Bullinger and L.
                      Palmqvist and D. Lipka$^*$ and C. Plass$^*$},
      title        = {{A}ltered enhancer-promoter interaction leads to {MNX}1
                      expression in pediatric acute myeloid leukemia with
                      t(7;12)(q36;p13).},
      journal      = {Blood advances},
      volume       = {8},
      number       = {19},
      issn         = {2473-9529},
      address      = {Washington, DC},
      publisher    = {American Society of Hematology},
      reportid     = {DKFZ-2024-01633},
      pages        = {5100-5111},
      year         = {2024},
      note         = {#EA:B370#EA:B087#LA:B370#LA:B340# / 2024 Oct
                      8;8(19):5100-5111},
      abstract     = {Acute myeloid leukemia (AML) with the t(7;12)(q36;p13)
                      translocation occurs only in very young children and has a
                      poor clinical outcome. The expected oncofusion between
                      breakpoint partners (MNX1 and ETV6) has only been reported
                      in a subset of cases. However, a universal feature is the
                      strong transcript and protein expression of MNX1, a homeobox
                      transcription factor that is normally not expressed in
                      hematopoietic cells. Here, we map the translocation
                      breakpoints on chromosomes 7 and 12 in affected patients to
                      a region proximal to MNX1 and either introns 1 or 2 of ETV6.
                      The frequency of MNX1 overexpression in pediatric AML
                      (n=1556, own and published data) is $2.4\%$ and occurs
                      predominantly in t(7;12)(q36;p13) AML. Chromatin interaction
                      assays in a t(7;12)(q36;p13) iPSC cell line model unravel an
                      enhancer-hijacking event that explains MNX1 overexpression
                      in hematopoietic cells. Our data suggest that
                      enhancer-hijacking may be a more widespread consequence of
                      translocations where no oncofusion product was identified,
                      including e.g. t(1;3) or t(4;12) AML.},
      cin          = {B370 / B087 / B340 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B370-20160331 / I:(DE-He78)B087-20160331 /
                      I:(DE-He78)B340-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39121370},
      doi          = {10.1182/bloodadvances.2023012161},
      url          = {https://inrepo02.dkfz.de/record/292145},
}