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024 7 _ |a 10.1158/1078-0432.CCR-23-2907
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024 7 _ |a 1078-0432
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024 7 _ |a 1557-3265
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037 _ _ |a DKFZ-2024-00255
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Iser, Florian
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245 _ _ |a Cerebrospinal fluid cfDNA sequencing for classification of central nervous system glioma.
260 _ _ |a Philadelphia, Pa. [u.a.]
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336 7 _ |a article
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500 _ _ |a #EA:B320#LA:B320#LA:B300# / 2024 Jul 15;30(14):2974-2985
520 _ _ |a 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.
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700 1 _ |a Hinz, Felix
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700 1 _ |a Hoffmann, Dirk Carsten Frieder
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700 1 _ |a Grassl, Niklas
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700 1 _ |a Güngör, Cansu
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700 1 _ |a Meyer, Jochen
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700 1 _ |a Hofmann, Lea
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700 1 _ |a Kelbch, Vanessa
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700 1 _ |a Vollmuth, Phillipp
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700 1 _ |a Kaulen, Leon
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700 1 _ |a Mildenberger, Iris
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700 1 _ |a Sahm, Katharina
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700 1 _ |a Maass, Kendra
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700 1 _ |a Pajtler, Kristian
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700 1 _ |a Shankar, Ganesh M
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700 1 _ |a Weiler, Markus
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700 1 _ |a Wildemann, Brigitte
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700 1 _ |a Winkler, Frank
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700 1 _ |a von Deimling, Andreas
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700 1 _ |a Platten, Michael
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700 1 _ |a Wick, Wolfgang
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700 1 _ |a Sahm, Felix
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700 1 _ |a Kessler, Tobias
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