guest ::
| Home > Publications database > LOGGIC Core BioClinical Data Bank: Added clinical value of RNA-Seq in an international molecular diagnostic registry for pediatric low-grade glioma patients. > print |
| Home > Publications database > LOGGIC Core BioClinical Data Bank: Added clinical value of RNA-Seq in an international molecular diagnostic registry for pediatric low-grade glioma patients. > print |
| 001 | 275480 | ||
| 005 | 20240229154942.0 | ||
| 024 | 7 | _ | |a 10.1093/neuonc/noad078 |2 doi |
| 024 | 7 | _ | |a pmid:37075810 |2 pmid |
| 024 | 7 | _ | |a 1522-8517 |2 ISSN |
| 024 | 7 | _ | |a 1523-5866 |2 ISSN |
| 024 | 7 | _ | |a altmetric:146192731 |2 altmetric |
| 037 | _ | _ | |a DKFZ-2023-00787 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Hardin, Emily Cecilia |0 P:(DE-He78)953707d4b9faf5d9183b719847bd99f0 |b 0 |e First author |u dkfz |
| 245 | _ | _ | |a LOGGIC Core BioClinical Data Bank: Added clinical value of RNA-Seq in an international molecular diagnostic registry for pediatric low-grade glioma patients. |
| 260 | _ | _ | |a Oxford |c 2023 |b Oxford Univ. Press |
| 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 1699454259_1867 |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:B310#LA:B310# / 2023 Nov 2;25(11):2087-2097 |
| 520 | _ | _ | |a The international, multicenter registry LOGGIC Core BioClinical Data Bank aims to enhance the understanding of tumor biology in pediatric low-grade glioma (pLGG) and provide clinical and molecular data to support treatment decisions and interventional trial participation. Hence, the question arises whether implementation of RNA sequencing (RNA-Seq) using Fresh Frozen (FrFr) tumor tissue in addition to gene panel and DNA methylation analysis improves diagnostic accuracy and provides additional clinical benefit.Analysis of patients age 0 to 21 years, enrolled in Germany between 04/2019 and 02/2021, and for whom FrFr tissue was available. Central reference histopathology, immunohistochemistry, 850k DNA methylation analysis, gene panel sequencing and RNA-Seq were performed.FrFr tissue was available in 178/379 enrolled cases. RNA-Seq was performed on 125 of these samples. We confirmed KIAA1549::BRAF-fusion (n=71), BRAF V600E-mutation (n=12) and alterations in FGFR1 (n=14) as the most frequent alterations, among other common molecular drivers (n=12). . N=16 cases (13%) presented rare gene fusions (e.g. TPM3::NTRK1, EWSR1::VGLL1, SH3PXD2A::HTRA1, PDGFB::LRP1, GOPC::ROS1). In n=27 cases (22%), RNA-Seq detected a driver alteration not otherwise identified (22/27 actionable). The rate of driver alteration detection was hereby increased from 75% to 97%. Furthermore, FGFR1 ITD (n=6) were only detected by RNA-Seq using current bioinformatics pipelines, leading to a change in analysis protocols.The addition of RNA-Seq to current diagnostic methods improves diagnostic accuracy, making precision oncology treatments (MEKi/RAFi/ERKi/NTRKi/FGFRi/ROSi) more accessible. We propose to include RNA-Seq as part of routine diagnostics for all pLGG patients, especially when no common pLGG alteration was identified. |
| 536 | _ | _ | |a 312 - Funktionelle und strukturelle Genomforschung (POF4-312) |0 G:(DE-HGF)POF4-312 |c POF4-312 |f POF IV |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de |
| 650 | _ | 7 | |a RNA sequencing |2 Other |
| 650 | _ | 7 | |a actionable drivers |2 Other |
| 650 | _ | 7 | |a molecular profiling |2 Other |
| 650 | _ | 7 | |a pLGG |2 Other |
| 650 | _ | 7 | |a rare gene fusions |2 Other |
| 700 | 1 | _ | |a Schmid, Simone |b 1 |
| 700 | 1 | _ | |a Sommerkamp, Alexander |0 P:(DE-He78)193d882d3418c5d0ffbb210947510711 |b 2 |
| 700 | 1 | _ | |a Bodden, Carina |0 P:(DE-He78)47cd5146804f8663c787b3b66fa8ffae |b 3 |u dkfz |
| 700 | 1 | _ | |a Heipertz, Anna-Elisa |0 P:(DE-He78)fefb13288db2a051ee6a10615da0b719 |b 4 |u dkfz |
| 700 | 1 | _ | |a Sievers, Philipp |0 P:(DE-He78)8aad075b17d93a5636a34942bdbd7ee6 |b 5 |u dkfz |
| 700 | 1 | _ | |a Wittmann, Andrea |0 P:(DE-He78)adf0bc22f6c87d09ddb939645a7870ed |b 6 |u dkfz |
| 700 | 1 | _ | |a Milde, Till |0 P:(DE-He78)0be2f86573954f87e97f8a4dbb05cb0f |b 7 |u dkfz |
| 700 | 1 | _ | |a Pfister, Stefan |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 8 |u dkfz |
| 700 | 1 | _ | |a von Deimling, Andreas |0 P:(DE-He78)a8a10626a848d31e70cfd96a133cc144 |b 9 |u dkfz |
| 700 | 1 | _ | |a Horn, Svea |b 10 |
| 700 | 1 | _ | |a Herz, Nina A |b 11 |
| 700 | 1 | _ | |a Simon, Michèle |b 12 |
| 700 | 1 | _ | |a Perera, Ashwyn Augustine |0 P:(DE-He78)a42658b653667a6ef624186eb844fe10 |b 13 |u dkfz |
| 700 | 1 | _ | |a Azizi, Amedeo |b 14 |
| 700 | 1 | _ | |a Cruz, Ofelia |b 15 |
| 700 | 1 | _ | |a Curry, Sarah |b 16 |
| 700 | 1 | _ | |a Van Damme, An |b 17 |
| 700 | 1 | _ | |a Garami, Miklos |b 18 |
| 700 | 1 | _ | |a Hargrave, Darren |b 19 |
| 700 | 1 | _ | |a Kattamis, Antonis |b 20 |
| 700 | 1 | _ | |a Kotnik, Barbara Faganel |b 21 |
| 700 | 1 | _ | |a Lähteenmäki, Päivi |0 0000-0002-5500-9606 |b 22 |
| 700 | 1 | _ | |a Scheinemann, Katrin |b 23 |
| 700 | 1 | _ | |a Schouten-van Meeteren, Antoinette Y N |b 24 |
| 700 | 1 | _ | |a Sehested, Astrid |b 25 |
| 700 | 1 | _ | |a Viscardi, Elisabetta |b 26 |
| 700 | 1 | _ | |a Wormdal, Ole Mikal |b 27 |
| 700 | 1 | _ | |a Zapotocky, Michal |b 28 |
| 700 | 1 | _ | |a Ziegler, David S |0 0000-0001-7451-7916 |b 29 |
| 700 | 1 | _ | |a Koch, Arend |b 30 |
| 700 | 1 | _ | |a Driever, Pablo Hernáiz |0 0000-0003-3135-3872 |b 31 |
| 700 | 1 | _ | |a Witt, Olaf |0 P:(DE-He78)143af26de9d57bf624771616318aaf7c |b 32 |u dkfz |
| 700 | 1 | _ | |a Capper, David |0 P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c |b 33 |u dkfz |
| 700 | 1 | _ | |a Sahm, Felix |0 P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88 |b 34 |u dkfz |
| 700 | 1 | _ | |a Jones, David |0 P:(DE-He78)551bb92841f634070997aa168d818492 |b 35 |u dkfz |
| 700 | 1 | _ | |a van Tilburg, Cornelis Martinus |0 P:(DE-He78)a6b5fcabf661bef95109dbee87dc5271 |b 36 |e Last author |u dkfz |
| 773 | _ | _ | |a 10.1093/neuonc/noad078 |g p. noad078 |0 PERI:(DE-600)2094060-9 |n 11 |p 2087-2097 |t Neuro-Oncology |v 25 |y 2023 |x 1522-8517 |
| 909 | C | O | |p VDB |o oai:inrepo02.dkfz.de:275480 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 0 |6 P:(DE-He78)953707d4b9faf5d9183b719847bd99f0 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 2 |6 P:(DE-He78)193d882d3418c5d0ffbb210947510711 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 3 |6 P:(DE-He78)47cd5146804f8663c787b3b66fa8ffae |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 4 |6 P:(DE-He78)fefb13288db2a051ee6a10615da0b719 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 5 |6 P:(DE-He78)8aad075b17d93a5636a34942bdbd7ee6 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 6 |6 P:(DE-He78)adf0bc22f6c87d09ddb939645a7870ed |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 7 |6 P:(DE-He78)0be2f86573954f87e97f8a4dbb05cb0f |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 8 |6 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 9 |6 P:(DE-He78)a8a10626a848d31e70cfd96a133cc144 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 13 |6 P:(DE-He78)a42658b653667a6ef624186eb844fe10 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 32 |6 P:(DE-He78)143af26de9d57bf624771616318aaf7c |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 33 |6 P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 34 |6 P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 35 |6 P:(DE-He78)551bb92841f634070997aa168d818492 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 36 |6 P:(DE-He78)a6b5fcabf661bef95109dbee87dc5271 |
| 913 | 1 | _ | |a DE-HGF |b Gesundheit |l Krebsforschung |1 G:(DE-HGF)POF4-310 |0 G:(DE-HGF)POF4-312 |3 G:(DE-HGF)POF4 |2 G:(DE-HGF)POF4-300 |4 G:(DE-HGF)POF |v Funktionelle und strukturelle Genomforschung |x 0 |
| 914 | 1 | _ | |y 2023 |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0113 |2 StatID |b Science Citation Index Expanded |d 2022-11-08 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0160 |2 StatID |b Essential Science Indicators |d 2022-11-08 |
| 915 | _ | _ | |a Nationallizenz |0 StatID:(DE-HGF)0420 |2 StatID |d 2023-10-24 |w ger |
| 915 | _ | _ | |a JCR |0 StatID:(DE-HGF)0100 |2 StatID |b NEURO-ONCOLOGY : 2022 |d 2023-10-24 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0200 |2 StatID |b SCOPUS |d 2023-10-24 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0300 |2 StatID |b Medline |d 2023-10-24 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0320 |2 StatID |b PubMed Central |d 2023-10-24 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0199 |2 StatID |b Clarivate Analytics Master Journal List |d 2023-10-24 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0150 |2 StatID |b Web of Science Core Collection |d 2023-10-24 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1110 |2 StatID |b Current Contents - Clinical Medicine |d 2023-10-24 |
| 915 | _ | _ | |a IF >= 15 |0 StatID:(DE-HGF)9915 |2 StatID |b NEURO-ONCOLOGY : 2022 |d 2023-10-24 |
| 920 | 2 | _ | |0 I:(DE-He78)B310-20160331 |k B310 |l KKE Pädiatrische Onkologie |x 0 |
| 920 | 1 | _ | |0 I:(DE-He78)B310-20160331 |k B310 |l KKE Pädiatrische Onkologie |x 0 |
| 920 | 1 | _ | |0 I:(DE-He78)HD01-20160331 |k HD01 |l DKTK HD zentral |x 1 |
| 920 | 1 | _ | |0 I:(DE-He78)B300-20160331 |k B300 |l KKE Neuropathologie |x 2 |
| 920 | 1 | _ | |0 I:(DE-He78)B360-20160331 |k B360 |l Pädiatische Gliomforschung |x 3 |
| 920 | 1 | _ | |0 I:(DE-He78)BE01-20160331 |k BE01 |l DKTK Koordinierungsstelle Berlin |x 4 |
| 920 | 1 | _ | |0 I:(DE-He78)B062-20160331 |k B062 |l B062 Pädiatrische Neuroonkologie |x 5 |
| 920 | 0 | _ | |0 I:(DE-He78)B310-20160331 |k B310 |l KKE Pädiatrische Onkologie |x 0 |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a I:(DE-He78)B310-20160331 |
| 980 | _ | _ | |a I:(DE-He78)HD01-20160331 |
| 980 | _ | _ | |a I:(DE-He78)B300-20160331 |
| 980 | _ | _ | |a I:(DE-He78)B360-20160331 |
| 980 | _ | _ | |a I:(DE-He78)BE01-20160331 |
| 980 | _ | _ | |a I:(DE-He78)B062-20160331 |
| 980 | _ | _ | |a UNRESTRICTED |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
|---|