Home > Publications database > Cerebrospinal fluid cfDNA sequencing for classification of central nervous system glioma. > print |
001 | 287463 | ||
005 | 20240715155106.0 | ||
024 | 7 | _ | |a 10.1158/1078-0432.CCR-23-2907 |2 doi |
024 | 7 | _ | |a pmid:38295147 |2 pmid |
024 | 7 | _ | |a 1078-0432 |2 ISSN |
024 | 7 | _ | |a 1557-3265 |2 ISSN |
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037 | _ | _ | |a DKFZ-2024-00255 |
041 | _ | _ | |a English |
082 | _ | _ | |a 610 |
100 | 1 | _ | |a Iser, Florian |0 P:(DE-He78)3a5c3ccb1136028578b6bc8fe12b3019 |b 0 |e First author |u dkfz |
245 | _ | _ | |a Cerebrospinal fluid cfDNA sequencing for classification of central nervous system glioma. |
260 | _ | _ | |a Philadelphia, Pa. [u.a.] |c 2024 |b AACR |
336 | 7 | _ | |a article |2 DRIVER |
336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1721051354_17127 |2 PUB:(DE-HGF) |
336 | 7 | _ | |a ARTICLE |2 BibTeX |
336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
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 |0 P:(DE-He78)8126cfb1cc3fa7fa8fd5c20410c6d863 |b 1 |u dkfz |
700 | 1 | _ | |a Hoffmann, Dirk Carsten Frieder |0 P:(DE-He78)e50ff195896914d35f54ed1bf913e270 |b 2 |u dkfz |
700 | 1 | _ | |a Grassl, Niklas |0 0000-0001-7987-0444 |b 3 |
700 | 1 | _ | |a Güngör, Cansu |0 0009-0002-4405-1427 |b 4 |
700 | 1 | _ | |a Meyer, Jochen |0 P:(DE-He78)b6273c0ba3ae37a4d3d1c6b084797f2e |b 5 |u dkfz |
700 | 1 | _ | |a Dörner, Laura |0 0009-0001-1528-3889 |b 6 |
700 | 1 | _ | |a Hofmann, Lea |0 0009-0001-4651-3659 |b 7 |
700 | 1 | _ | |a Kelbch, Vanessa |0 0009-0008-1911-5832 |b 8 |
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700 | 1 | _ | |a Mahmutoglu, Mustafa Ahmed |b 10 |
700 | 1 | _ | |a Vollmuth, Phillipp |0 0000-0002-6224-0064 |b 11 |
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700 | 1 | _ | |a Pajtler, Kristian |0 P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d |b 18 |u dkfz |
700 | 1 | _ | |a Shankar, Ganesh M |0 0009-0006-5203-8619 |b 19 |
700 | 1 | _ | |a Weiler, Markus |b 20 |
700 | 1 | _ | |a Wildemann, Brigitte |0 0000-0002-5389-3338 |b 21 |
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700 | 1 | _ | |a von Deimling, Andreas |0 P:(DE-He78)a8a10626a848d31e70cfd96a133cc144 |b 23 |u dkfz |
700 | 1 | _ | |a Platten, Michael |0 P:(DE-He78)5ef8651b0f857b9c640aa5b1498c43b5 |b 24 |u dkfz |
700 | 1 | _ | |a Wick, Wolfgang |0 P:(DE-He78)92e9783ca7025f36ce14e12cd348d2ee |b 25 |u dkfz |
700 | 1 | _ | |a Sahm, Felix |0 P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88 |b 26 |e Last author |u dkfz |
700 | 1 | _ | |a Kessler, Tobias |0 P:(DE-He78)5c2c9cbe6ce72553684d82d94aebdadd |b 27 |e Last author |u dkfz |
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