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NTRK testing: First results of the QuiP‐EQA scheme and a comprehensive map of NTRK fusion variants and their diagnostic coverage by targeted RNA ‐based NGS assays

Kirchner, Martina ; Glade, Julia ; Lehmann, Ulrich ; Merkelbach‐Bruse, Sabine ; Hummel, Michael ; Lehmann, Annika ; Trautmann, Marcel ; Kumbrink, Jörg ; Jung, Andreas ; Dietmaier, Wolfgang ; Endris, Volker ; Kazdal, Daniel ; Ploeger, Carolin ; Evert, Matthias ; Horst, David ; Kreipe, Hans ; Kirchner, Thomas ; Wardelmann, Eva ; Büttner, Reinhard ; Weichert, Wilko ; Dietel, Manfred ; Schirmacher, Peter ; Stenzinger, Albrecht ; Pfarr, Nicole



Abstract

Gene fusions involving the three neurotrophic tyrosine receptor kinase genes NTRK1, NTRK2, or NTRK3 were identified as oncogenic drivers in many cancer types. Two small molecule inhibitors have been tested in clinical trials recently and require the detection of a NTRK fusion gene prior to therapeutic application. Fluorescence in situ hybridization (FISH) and targeted next-generation sequencing ...

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