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@ARTICLE{Reuss:276776,
      author       = {D. E. Reuss$^*$ and S. M. Downing and C. V. Camacho and
                      Y.-D. Wang and R. M. Piro and C. Herold-Mende and Z.-Q. Wang
                      and T. G. Hofmann and F. Sahm$^*$ and A. von Deimling$^*$
                      and P. J. McKinnon and P.-O. Frappart},
      title        = {{S}imultaneous {N}bs1 and p53 inactivation in neural
                      progenitors triggers {H}igh-{G}rade {G}liomas ({HGG}).},
      journal      = {Neuropathology $\&$ applied neurobiology},
      volume       = {49},
      number       = {4},
      issn         = {0305-1846},
      address      = {Oxford [u.a.]},
      publisher    = {Wiley-Blackwell},
      reportid     = {DKFZ-2023-01157},
      pages        = {e12915},
      year         = {2023},
      note         = {#EA:B300# / 2023 Aug;49(4):e12915},
      abstract     = {Nijmegen Breakage Syndrome (NBS) is a rare autosomal
                      recessive disorder caused by hypomorphic mutations of NBS1.
                      NBS1 is a member of the MRE11A-RAD50-NBS1 (MRN) complex
                      which binds DNA double-strand breaks and activates the DNA
                      Damage Response (DDR). Nbs1 inactivation in neural
                      progenitor cells leads to microcephaly and premature death.
                      Interestingly, p53 homozygous deletion rescues the
                      NBS1-deficient phenotype allowing long-term survival. The
                      objective of this work was to determine whether simultaneous
                      inactivation of Nbs1 and p53 in neural progenitors triggered
                      brain tumorigenesis and if so in which category this tumour
                      could be classified.We generated a mouse model with
                      simultaneous genetic inactivation of Nbs1 and p53 in
                      embryonic neural stem cells and analysed the arising tumours
                      with in-depth molecular analyses including
                      immunohistochemistry, array Comparative Genomic
                      Hybridization (aCGH), whole exome-sequencing and
                      RNA-sequencing.NBS1/P53-deficient mice develop high-grade
                      gliomas (HGG) arising in the olfactory bulbs and the cortex
                      along the rostral migratory stream, and to a lower incidence
                      of medulloblastomas. In-depth molecular analyses using
                      immunohistochemistry, array Comparative Genomic
                      Hybridization (aCGH), whole exome-sequencing and
                      RNA-sequencing revealed striking similarities to paediatric
                      human HGG with shared features with Radiation-Induced
                      Gliomas: RIG.Our findings show that concomitant inactivation
                      of Nbs1 and p53 in mice promotes HGG with RIG features. This
                      model could be useful for preclinical studies to improve the
                      prognosis of these deadly tumours, but it also highlights
                      the singularity of NBS1 among the other DNA damage response
                      proteins in the aetiology of brain tumours.},
      keywords     = {NBS1 (Other) / P53 (Other) / PDGFRA (Other) / genomic
                      rearrangements (Other) / high-grade glioma (Other)},
      cin          = {B300 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / 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:37296499},
      doi          = {10.1111/nan.12915},
      url          = {https://inrepo02.dkfz.de/record/276776},
}