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@ARTICLE{Ecker:186390,
      author       = {J. Ecker$^*$ and F. Selt$^*$ and D. Sturm$^*$ and M.
                      Sill$^*$ and A. Korshunov$^*$ and S. Hirsch$^*$ and D.
                      Capper$^*$ and N. Dikow and C. Sutter and C. Müller$^*$ and
                      R. Sigaud$^*$ and A. Eggert and T. Simon and T. Niehues and
                      A. von Deimling$^*$ and K. W. Pajtler$^*$ and C. M. van
                      Tilburg$^*$ and D. T. W. Jones$^*$ and F. Sahm$^*$ and S. M.
                      Pfister$^*$ and O. Witt$^*$ and T. Milde$^*$},
      title        = {{M}olecular diagnostics enables detection of actionable
                      targets: the {P}ediatric {T}argeted {T}herapy 2.0 registry.},
      journal      = {European journal of cancer},
      volume       = {180},
      issn         = {0014-2964},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier},
      reportid     = {DKFZ-2022-03157},
      pages        = {71 - 84},
      year         = {2023},
      note         = {#EA:B310#LA:B310#},
      abstract     = {Precision oncology requires diagnostic accuracy and robust
                      detection of actionable alterations. The Pediatric Targeted
                      Therapy (PTT) 2.0 program aims at improving diagnostic
                      accuracy by addition of molecular analyses to the existing
                      histological diagnosis and detection of actionable
                      alterations for relapsed paediatric oncology patients, in
                      cases with limited availability of tumour
                      material.Paediatric patients diagnosed with relapse or
                      progression of a central nervous system tumour (n = 178), a
                      sarcoma (n = 41) or another solid tumour (n = 44) were
                      included. DNA methylation array, targeted gene panel
                      sequencing on tumour and blood (130 genes), RNA sequencing
                      in selected cases and a pathway-specific
                      immunohistochemistry (IHC) panel were performed using
                      limited formalin-fixed paraffin embedded tissue from any
                      disease episode available. The clinical impact of reported
                      findings was assessed by a serial questionnaire-based
                      follow-up.Integrated molecular diagnostics resulted in
                      refined or changed diagnosis in 117/263 $(44\%)$ tumours.
                      Actionable targets were detected in 155/263 $(59\%)$ cases.
                      Constitutional DNA variants with clinical relevance were
                      identified in 16/240 $(7\%)$ of patients, half of which were
                      previously unknown. Clinical follow-up showed that 26/263
                      $(10\%)$ of patients received mechanism-of-action based
                      treatment matched to the molecular findings.Next-generation
                      diagnostics adds robust and relevant information on
                      diagnosis, actionable alterations and cancer predisposition
                      syndromes even when tissue from the current disease episode
                      is limited.},
      keywords     = {Brain tumour (Other) / Cancer predisposition (Other) /
                      Constitutional DNA variant (Other) / Molecular diagnostics
                      (Other) / Molecular targeted therapy (Other) / Paediatric
                      oncology (Other) / Precision oncology (Other) / Sarcoma
                      (Other)},
      cin          = {B310 / HD01 / B360 / B062 / B300 / BE01},
      ddc          = {610},
      cid          = {I:(DE-He78)B310-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B360-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)B300-20160331 / I:(DE-He78)BE01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36542877},
      doi          = {10.1016/j.ejca.2022.11.015},
      url          = {https://inrepo02.dkfz.de/record/186390},
}