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000275480 1001_ $$0P:(DE-He78)953707d4b9faf5d9183b719847bd99f0$$aHardin, Emily Cecilia$$b0$$eFirst author$$udkfz
000275480 245__ $$aLOGGIC Core BioClinical Data Bank: Added clinical value of RNA-Seq in an international molecular diagnostic registry for pediatric low-grade glioma patients.
000275480 260__ $$aOxford$$bOxford Univ. Press$$c2023
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000275480 500__ $$a#EA:B310#LA:B310# / 2023 Nov 2;25(11):2087-2097
000275480 520__ $$aThe international, multicenter registry LOGGIC Core BioClinical Data Bank aims to enhance the understanding of tumor biology in pediatric low-grade glioma (pLGG) and provide clinical and molecular data to support treatment decisions and interventional trial participation. Hence, the question arises whether implementation of RNA sequencing (RNA-Seq) using Fresh Frozen (FrFr) tumor tissue in addition to gene panel and DNA methylation analysis improves diagnostic accuracy and provides additional clinical benefit.Analysis of patients age 0 to 21 years, enrolled in Germany between 04/2019 and 02/2021, and for whom FrFr tissue was available. Central reference histopathology, immunohistochemistry, 850k DNA methylation analysis, gene panel sequencing and RNA-Seq were performed.FrFr tissue was available in 178/379 enrolled cases. RNA-Seq was performed on 125 of these samples. We confirmed KIAA1549::BRAF-fusion (n=71), BRAF V600E-mutation (n=12) and alterations in FGFR1 (n=14) as the most frequent alterations, among other common molecular drivers (n=12). . N=16 cases (13%) presented rare gene fusions (e.g. TPM3::NTRK1, EWSR1::VGLL1, SH3PXD2A::HTRA1, PDGFB::LRP1, GOPC::ROS1). In n=27 cases (22%), RNA-Seq detected a driver alteration not otherwise identified (22/27 actionable). The rate of driver alteration detection was hereby increased from 75% to 97%. Furthermore, FGFR1 ITD (n=6) were only detected by RNA-Seq using current bioinformatics pipelines, leading to a change in analysis protocols.The addition of RNA-Seq to current diagnostic methods improves diagnostic accuracy, making precision oncology treatments (MEKi/RAFi/ERKi/NTRKi/FGFRi/ROSi) more accessible. We propose to include RNA-Seq as part of routine diagnostics for all pLGG patients, especially when no common pLGG alteration was identified.
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000275480 650_7 $$2Other$$aRNA sequencing
000275480 650_7 $$2Other$$aactionable drivers
000275480 650_7 $$2Other$$amolecular profiling
000275480 650_7 $$2Other$$apLGG
000275480 650_7 $$2Other$$arare gene fusions
000275480 7001_ $$aSchmid, Simone$$b1
000275480 7001_ $$0P:(DE-He78)193d882d3418c5d0ffbb210947510711$$aSommerkamp, Alexander$$b2
000275480 7001_ $$0P:(DE-He78)47cd5146804f8663c787b3b66fa8ffae$$aBodden, Carina$$b3$$udkfz
000275480 7001_ $$0P:(DE-He78)fefb13288db2a051ee6a10615da0b719$$aHeipertz, Anna-Elisa$$b4$$udkfz
000275480 7001_ $$0P:(DE-He78)8aad075b17d93a5636a34942bdbd7ee6$$aSievers, Philipp$$b5$$udkfz
000275480 7001_ $$0P:(DE-He78)adf0bc22f6c87d09ddb939645a7870ed$$aWittmann, Andrea$$b6$$udkfz
000275480 7001_ $$0P:(DE-He78)0be2f86573954f87e97f8a4dbb05cb0f$$aMilde, Till$$b7$$udkfz
000275480 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b8$$udkfz
000275480 7001_ $$0P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$avon Deimling, Andreas$$b9$$udkfz
000275480 7001_ $$aHorn, Svea$$b10
000275480 7001_ $$aHerz, Nina A$$b11
000275480 7001_ $$aSimon, Michèle$$b12
000275480 7001_ $$0P:(DE-He78)a42658b653667a6ef624186eb844fe10$$aPerera, Ashwyn Augustine$$b13$$udkfz
000275480 7001_ $$aAzizi, Amedeo$$b14
000275480 7001_ $$aCruz, Ofelia$$b15
000275480 7001_ $$aCurry, Sarah$$b16
000275480 7001_ $$aVan Damme, An$$b17
000275480 7001_ $$aGarami, Miklos$$b18
000275480 7001_ $$aHargrave, Darren$$b19
000275480 7001_ $$aKattamis, Antonis$$b20
000275480 7001_ $$aKotnik, Barbara Faganel$$b21
000275480 7001_ $$00000-0002-5500-9606$$aLähteenmäki, Päivi$$b22
000275480 7001_ $$aScheinemann, Katrin$$b23
000275480 7001_ $$aSchouten-van Meeteren, Antoinette Y N$$b24
000275480 7001_ $$aSehested, Astrid$$b25
000275480 7001_ $$aViscardi, Elisabetta$$b26
000275480 7001_ $$aWormdal, Ole Mikal$$b27
000275480 7001_ $$aZapotocky, Michal$$b28
000275480 7001_ $$00000-0001-7451-7916$$aZiegler, David S$$b29
000275480 7001_ $$aKoch, Arend$$b30
000275480 7001_ $$00000-0003-3135-3872$$aDriever, Pablo Hernáiz$$b31
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000275480 7001_ $$0P:(DE-He78)a6b5fcabf661bef95109dbee87dc5271$$avan Tilburg, Cornelis Martinus$$b36$$eLast author$$udkfz
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