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@ARTICLE{Iser:287463,
      author       = {F. Iser$^*$ and F. Hinz$^*$ and D. C. F. Hoffmann$^*$ and
                      N. Grassl$^*$ and C. Güngör and J. Meyer$^*$ and L.
                      Dörner$^*$ and L. Hofmann$^*$ and V. Kelbch$^*$ and K.
                      Göbel$^*$ and M. A. Mahmutoglu and P. Vollmuth and A. J.
                      Patel$^*$ and D. Nguyen$^*$ and L. Kaulen$^*$ and I.
                      Mildenberger$^*$ and K. Sahm$^*$ and K. Maass$^*$ and K.
                      Pajtler$^*$ and G. M. Shankar and M. Weiler and B. Wildemann
                      and F. Winkler$^*$ and A. von Deimling$^*$ and M.
                      Platten$^*$ and W. Wick$^*$ and F. Sahm$^*$ and T.
                      Kessler$^*$},
      title        = {{C}erebrospinal fluid cf{DNA} sequencing for classification
                      of central nervous system glioma.},
      journal      = {Clinical cancer research},
      volume       = {30},
      number       = {14},
      issn         = {1078-0432},
      address      = {Philadelphia, Pa. [u.a.]},
      publisher    = {AACR},
      reportid     = {DKFZ-2024-00255},
      pages        = {2974-2985},
      year         = {2024},
      note         = {#EA:B320#LA:B320#LA:B300# / 2024 Jul 15;30(14):2974-2985},
      abstract     = {Primary central nervous system (CNS) gliomas can be
                      classified by characteristic genetic alterations. In
                      addition to solid tissue obtained via surgery or biopsy,
                      cell-free DNA (cfDNA) from cerebrospinal fluid (CSF) is an
                      alternative source of material for genomic analyses.We
                      performed targeted next-generation sequencing (NGS) of CSF
                      cfDNA in a representative cohort of 85 patients presenting
                      at two neurooncological centers with suspicion of primary or
                      recurrent glioma. Copy-number variation (CNV) profiles,
                      single nucleotide variants (SNVs), and small insertions/
                      deletions (indels) were combined into a molecular-guided
                      tumor classification. Comparison with the solid tumor was
                      performed for 38 cases with matching solid tissue
                      available.Cases were stratified into four groups:
                      glioblastoma (n = 32), other glioma (n = 19), non-malignant
                      (n = 17) and non-diagnostic (n = 17). We introduced a
                      molecular-guided tumor classification, which enabled
                      identification of tumor entities and/ or cancer specific
                      alterations in 75.0 $\%$ (n = 24) of glioblastoma and 52.6
                      $\%$ (n = 10) of other glioma cases. The overlap between CSF
                      and matching solid tissue was highest for CNVs (26-48 $\%)$
                      and SNVs at pre-defined gene loci (44 $\%),$ followed by
                      SNVs/ indels identified via uninformed variant calling (8-14
                      $\%).$ A molecular-guided tumor classification was possible
                      for 23.5 $\%$ (n = 4) of non-diagnostic cases.We developed a
                      targeted sequencing workflow for CSF cfDNA as well as a
                      strategy for interpretation and reporting of sequencing
                      results based on a molecular-guided tumor classification in
                      glioma.},
      cin          = {B320 / HD01 / B300 / D170 / W610 / B062},
      ddc          = {610},
      cid          = {I:(DE-He78)B320-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B300-20160331 / I:(DE-He78)D170-20160331 /
                      I:(DE-He78)W610-20160331 / 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:38295147},
      doi          = {10.1158/1078-0432.CCR-23-2907},
      url          = {https://inrepo02.dkfz.de/record/287463},
}