TY  - JOUR
AU  - Stichel, Damian
AU  - Schrimpf, Daniel
AU  - Casalini, Belén
AU  - Meyer, Jochen
AU  - Wefers, Annika K
AU  - Sievers, Philipp
AU  - Korshunov, Andrey
AU  - Koelsche, Christian
AU  - Reuss, David E
AU  - Reinhardt, Annekathrin
AU  - Ebrahimi, Azadeh
AU  - Fernández-Klett, Francisco
AU  - Kessler, Tobias
AU  - Sturm, Dominik
AU  - Ecker, Jonas
AU  - Milde, Till
AU  - Herold-Mende, Christel
AU  - Witt, Olaf
AU  - Pfister, Stefan M
AU  - Wick, Wolfgang
AU  - Jones, David T W
AU  - von Deimling, Andreas
AU  - Sahm, Felix
TI  - Routine RNA sequencing of formalin-fixed paraffin-embedded specimens in neuropathology diagnostics identifies diagnostically and therapeutically relevant gene fusions.
JO  - Acta neuropathologica
VL  - 138
IS  - 5
SN  - 1432-0533
CY  - Heidelberg
PB  - Springer
M1  - DKFZ-2019-01755
SP  - 827-835
PY  - 2019
AB  - 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
LB  - PUB:(DE-HGF)16
C6  - pmid:31278449
DO  - DOI:10.1007/s00401-019-02039-3
UR  - https://inrepo02.dkfz.de/record/144235
ER  -