%0 Journal Article
%A Stichel, Damian
%A Schrimpf, Daniel
%A Casalini, Belén
%A Meyer, Jochen
%A Wefers, Annika K
%A Sievers, Philipp
%A Korshunov, Andrey
%A Koelsche, Christian
%A Reuss, David E
%A Reinhardt, Annekathrin
%A Ebrahimi, Azadeh
%A Fernández-Klett, Francisco
%A Kessler, Tobias
%A Sturm, Dominik
%A Ecker, Jonas
%A Milde, Till
%A Herold-Mende, Christel
%A Witt, Olaf
%A Pfister, Stefan M
%A Wick, Wolfgang
%A Jones, David T W
%A von Deimling, Andreas
%A Sahm, Felix
%T Routine RNA sequencing of formalin-fixed paraffin-embedded specimens in neuropathology diagnostics identifies diagnostically and therapeutically relevant gene fusions.
%J Acta neuropathologica
%V 138
%N 5
%@ 1432-0533
%C Heidelberg
%I Springer
%M DKFZ-2019-01755
%P 827-835
%D 2019
%X Molecular markers have become pivotal in brain tumor diagnostics. Mutational analyses by targeted next-generation sequencing of DNA and array-based DNA methylation assessment with copy number analyses are increasingly being used in routine diagnostics. However, the broad variety of gene fusions occurring in brain tumors is marginally covered by these technologies and often only assessed by targeted assays. Here, we assessed the feasibility and clinical value of investigating gene fusions in formalin-fixed paraffin-embedded (FFPE) tumor tissues by next-generation mRNA sequencing in a routine diagnostic setting. After establishment and optimization of a workflow applicable in a routine setting, prospective diagnostic application in a neuropathology department for 26 months yielded relevant fusions in 66 out of 101 (65
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:31278449
%R 10.1007/s00401-019-02039-3
%U https://inrepo02.dkfz.de/record/144235