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@ARTICLE{Ryl:291942,
      author       = {T. Ryl and E. Afanasyeva and T. Hartmann and M. Schwermer
                      and M. Schneider and C. Schröder and M. Wagemanns and A.
                      Bister and D. Kanber and L. Steenpass and K. Schramm$^*$ and
                      B. Jones$^*$ and D. Jones$^*$ and E. Biewald and K.
                      Astrahantseff and H. Hannenberg and S. Rahmann and D. R.
                      Lohmann and A. Schramm and P. Ketteler},
      title        = {{A} {MYCN}-driven de-differentiation profile identifies a
                      subgroup of aggressive retinoblastoma.},
      journal      = {Communications biology},
      volume       = {7},
      number       = {1},
      issn         = {2399-3642},
      address      = {London},
      publisher    = {Springer Nature},
      reportid     = {DKFZ-2024-01550},
      pages        = {919},
      year         = {2024},
      abstract     = {Retinoblastoma are childhood eye tumors arising from
                      retinal precursor cells. Two distinct retinoblastoma
                      subtypes with different clinical behavior have been
                      described based on gene expression and methylation
                      profiling. Using consensus clustering of DNA methylation
                      analysis from 61 retinoblastomas, we identify a MYCN-driven
                      cluster of subtype 2 retinoblastomas characterized by DNA
                      hypomethylation and high expression of genes involved in
                      protein synthesis. Subtype 2 retinoblastomas outside the
                      MYCN-driven cluster are characterized by high expression of
                      genes from mesodermal development, including NKX2-5.
                      Knockdown of MYCN expression in retinoblastoma cell models
                      causes growth arrest and reactivates a subtype 1-specific
                      photoreceptor signature. These molecular changes suggest
                      that removing the driving force of MYCN oncogenic activity
                      rescues molecular circuitry driving subtype 1 biology. The
                      MYCN-RB gene signature generated from the cell models better
                      identifies MYCN-driven retinoblastoma than MYCN
                      amplification and can identify cases that may benefit from
                      MYCN-targeted therapy. MYCN drives tumor progression in a
                      molecularly defined retinoblastoma subgroup, and inhibiting
                      MYCN activity could restore a more differentiated and less
                      aggressive tumor biology.},
      keywords     = {Humans / Retinoblastoma: genetics / Retinoblastoma:
                      pathology / N-Myc Proto-Oncogene Protein: genetics / N-Myc
                      Proto-Oncogene Protein: metabolism / DNA Methylation /
                      Retinal Neoplasms: genetics / Retinal Neoplasms: pathology /
                      Retinal Neoplasms: metabolism / Gene Expression Regulation,
                      Neoplastic / Cell Line, Tumor / Cell Dedifferentiation:
                      genetics / Female / Male / Child, Preschool / N-Myc
                      Proto-Oncogene Protein (NLM Chemicals) / MYCN protein, human
                      (NLM Chemicals)},
      cin          = {B360},
      ddc          = {570},
      cid          = {I:(DE-He78)B360-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39079981},
      doi          = {10.1038/s42003-024-06596-6},
      url          = {https://inrepo02.dkfz.de/record/291942},
}