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@ARTICLE{Hardin:275480,
      author       = {E. C. Hardin$^*$ and S. Schmid and A. Sommerkamp$^*$ and C.
                      Bodden$^*$ and A.-E. Heipertz$^*$ and P. Sievers$^*$ and A.
                      Wittmann$^*$ and T. Milde$^*$ and S. Pfister$^*$ and A. von
                      Deimling$^*$ and S. Horn and N. A. Herz and M. Simon and A.
                      A. Perera$^*$ and A. Azizi and O. Cruz and S. Curry and A.
                      Van Damme and M. Garami and D. Hargrave and A. Kattamis and
                      B. F. Kotnik and P. Lähteenmäki and K. Scheinemann and A.
                      Y. N. Schouten-van Meeteren and A. Sehested and E. Viscardi
                      and O. M. Wormdal and M. Zapotocky and D. S. Ziegler and A.
                      Koch and P. H. Driever and O. Witt$^*$ and D. Capper$^*$ and
                      F. Sahm$^*$ and D. Jones$^*$ and C. M. van Tilburg$^*$},
      title        = {{LOGGIC} {C}ore {B}io{C}linical {D}ata {B}ank: {A}dded
                      clinical value of {RNA}-{S}eq in an international molecular
                      diagnostic registry for pediatric low-grade glioma
                      patients.},
      journal      = {Neuro-Oncology},
      volume       = {25},
      number       = {11},
      issn         = {1522-8517},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DKFZ-2023-00787},
      pages        = {2087-2097},
      year         = {2023},
      note         = {#EA:B310#LA:B310# / 2023 Nov 2;25(11):2087-2097},
      abstract     = {The international, multicenter registry LOGGIC Core
                      BioClinical Data Bank aims to enhance the understanding of
                      tumor biology in pediatric low-grade glioma (pLGG) and
                      provide clinical and molecular data to support treatment
                      decisions and interventional trial participation. Hence, the
                      question arises whether implementation of RNA sequencing
                      (RNA-Seq) using Fresh Frozen (FrFr) tumor tissue in addition
                      to gene panel and DNA methylation analysis improves
                      diagnostic accuracy and provides additional clinical
                      benefit.Analysis of patients age 0 to 21 years, enrolled in
                      Germany between 04/2019 and 02/2021, and for whom FrFr
                      tissue was available. Central reference histopathology,
                      immunohistochemistry, 850k DNA methylation analysis, gene
                      panel sequencing and RNA-Seq were performed.FrFr tissue was
                      available in 178/379 enrolled cases. RNA-Seq was performed
                      on 125 of these samples. We confirmed KIAA1549::BRAF-fusion
                      (n=71), BRAF V600E-mutation (n=12) and alterations in FGFR1
                      (n=14) as the most frequent alterations, among other common
                      molecular drivers (n=12). . N=16 cases $(13\%)$ presented
                      rare gene fusions (e.g. TPM3::NTRK1, EWSR1::VGLL1,
                      SH3PXD2A::HTRA1, PDGFB::LRP1, GOPC::ROS1). In n=27 cases
                      $(22\%),$ RNA-Seq detected a driver alteration not otherwise
                      identified (22/27 actionable). The rate of driver alteration
                      detection was hereby increased from $75\%$ to $97\%.$
                      Furthermore, FGFR1 ITD (n=6) were only detected by RNA-Seq
                      using current bioinformatics pipelines, leading to a change
                      in analysis protocols.The addition of RNA-Seq to current
                      diagnostic methods improves diagnostic accuracy, making
                      precision oncology treatments
                      (MEKi/RAFi/ERKi/NTRKi/FGFRi/ROSi) more accessible. We
                      propose to include RNA-Seq as part of routine diagnostics
                      for all pLGG patients, especially when no common pLGG
                      alteration was identified.},
      keywords     = {RNA sequencing (Other) / actionable drivers (Other) /
                      molecular profiling (Other) / pLGG (Other) / rare gene
                      fusions (Other)},
      cin          = {B310 / HD01 / B300 / B360 / BE01 / B062},
      ddc          = {610},
      cid          = {I:(DE-He78)B310-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B300-20160331 / I:(DE-He78)B360-20160331 /
                      I:(DE-He78)BE01-20160331 / I:(DE-He78)B062-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37075810},
      doi          = {10.1093/neuonc/noad078},
      url          = {https://inrepo02.dkfz.de/record/275480},
}