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@ARTICLE{Fischer:303504,
      author       = {T. Fischer$^*$ and K. Maass$^*$ and M. Schoof and P.
                      Puranachot and P. Sievers$^*$ and S. Montigel$^*$ and T.
                      Fluhr and A. El Damaty and A. Seitz and S. Harrabi and K.
                      Schramm$^*$ and D. Sturm$^*$ and D. Jones$^*$ and S.
                      Pfister$^*$ and O. Witt$^*$ and C. M. van Tilburg$^*$ and T.
                      Milde$^*$ and U. Schüller and K. Pajtler$^*$},
      title        = {{C}erebrospinal fluid liquid biopsy guides differential
                      diagnosis of relapsed medulloblastoma versus secondary
                      glioma: {A} case report of a pediatric patient enrolled on a
                      {PDGFRA} inhibitor trial.},
      journal      = {Neuro-oncology advances},
      volume       = {7},
      number       = {1},
      issn         = {2632-2498},
      address      = {Oxford},
      publisher    = {Oxford University Press},
      reportid     = {DKFZ-2025-01695},
      pages        = {vdaf110},
      year         = {2025},
      note         = {#EA:B062#LA:B062#},
      abstract     = {Liquid biopsies have the potential to substantially
                      transform clinical oncology, but their technical
                      applicability and clinical utility in pediatric
                      neuro-oncology remain to be explored. Here, we present a
                      case of a medulloblastoma patient in which a cerebrospinal
                      fluid liquid biopsy provided an accurate molecular tumor
                      classification of a secondary glioma during follow-up. Using
                      Nanopore sequencing and low-coverage whole genome sequencing
                      pipelines optimized for cell-free DNA, the liquid biopsy
                      revealed a PDGFRA amplification and DNA methylation-based
                      tumor classification consistent with a secondary glioma.
                      These findings guided the tumor board's differential
                      diagnosis of medulloblastoma relapse versus secondary
                      glioma. Notably, the rapid turnaround time of the Nanopore
                      sequencing results enabled timely preparation for enrollment
                      in a PDGFRA inhibitor trial while awaiting confirmatory
                      results from the tissue biopsy. This case exemplifies the
                      advancing frontier of liquid biopsies and provides the
                      rationale for prospective implementation in larger case
                      series and clinical trials in pediatric neuro-oncology.},
      keywords     = {cell-free DNA (Other) / cerebrospinal fluid liquid biopsy
                      (Other) / molecular biomarkers (Other) / pediatric
                      neuro-oncology (Other) / secondary glioma (Other)},
      cin          = {B062 / HD01 / B300 / B360 / B310},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B300-20160331 / I:(DE-He78)B360-20160331 /
                      I:(DE-He78)B310-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40800122},
      pmc          = {pmc:PMC12342540},
      doi          = {10.1093/noajnl/vdaf110},
      url          = {https://inrepo02.dkfz.de/record/303504},
}