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@ARTICLE{White:277882,
      author       = {C. L. White and K. M. Kinross and M. K. Buntine and E.
                      Rasouli and R. Strong and J. M. Jones and J. E. Cain and D.
                      Sturm$^*$ and F. Sahm$^*$ and D. T. W. Jones$^*$ and S. M.
                      Pfister$^*$ and T. Robertson and C. D'Arcy and M. L.
                      Rodriguez and J. M. Dyke and R. Junckerstorff and D. D.
                      Bhuva and M. J. Davis and P. Wood and T. Hassall and D. S.
                      Ziegler and S. Kellie and G. McCowage and F. Alvaro and M.
                      Kirby and J. A. Heath and K. Tsui and A. Dodgshun and D. D.
                      Eisenstat and D.-A. Khuong-Quang and M. Wall and E. M. Algar
                      and N. G. Gottardo and J. R. Hansford},
      title        = {{I}mplementation of {DNA} methylation array profiling in
                      pediatric central nervous system tumors - the {AIM} {BRAIN}
                      {P}roject: an {A}ustralian and {N}ew {Z}ealand {C}hildren's
                      {H}aematology and {O}ncology ({ANZCHOG}) {G}roup study.},
      journal      = {The journal of molecular diagnostics},
      volume       = {25},
      number       = {10},
      issn         = {1525-1578},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier},
      reportid     = {DKFZ-2023-01550},
      pages        = {709-728},
      year         = {2023},
      note         = {2023 Oct;25(10):709-728},
      abstract     = {DNA methylation array profiling for classifying pediatric
                      central nervous system (CNS) tumors is a valuable adjunct to
                      histopathology. However, unbiased prospective and
                      inter-laboratory validation studies have been lacking. The
                      AIM BRAIN (AB) diagnostic trial involving 11 pediatric
                      cancer centers in Australia and New Zealand was designed to
                      test the feasibility of routine clinical testing and ran in
                      parallel with the Molecular Neuropathology 2.0 (MNP2.0)
                      study at Deutsches Krebsforschungszentrum (DKFZ) (German
                      Cancer Centre Heidelberg, Germany). CNS tumors from 269
                      pediatric patients were prospectively tested on Illumina
                      EPIC arrays including 104 cases co-enrolled on MNP2.0. Using
                      MNP classifier versions 11b4 and 12.5, we report
                      classifications with a probability score ≥ 0.90 in 176/265
                      $(66.4\%)$ and 213/269 $(79.2\%)$ cases, respectively.
                      Significant diagnostic information was obtained in 130/176
                      $(74\%)$ (11b4) and 12/174 $(7\%)$ classifications were
                      discordant with histopathology. Cases prospectively
                      co-enrolled on MNP2.0 gave concordant classifications
                      $(99\%)$ and score thresholds $(93\%),$ demonstrating
                      excellent test reproducibility and sensitivity. Overall, DNA
                      methylation profiling is a robust single work-flow technique
                      with an acceptable diagnostic yield that is considerably
                      enhanced by the extensive subgroup and copy number profile
                      information generated by the platform. The platform has
                      excellent test reproducibility and sensitivity and
                      contributes significantly to CNS tumor diagnosis.},
      cin          = {B360 / HD01 / B300 / B062},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B300-20160331 / 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:37517472},
      doi          = {10.1016/j.jmoldx.2023.06.013},
      url          = {https://inrepo02.dkfz.de/record/277882},
}