Pfarr, Nicole ORCID: 0000-0002-5977-5375, Kirchner, Martina, Lehmann, Ulrich, Leichsenring, Jonas, Merkelbach-Bruse, Sabine, Glade, Julia, Hummel, Michael, Stoegbauer, Fabian, Lehmann, Annika, Trautmann, Marcel ORCID: 0000-0002-5842-1196, Kumbrink, Joerg, Jung, Andreas, Dietmaier, Wolfgang, Endris, Volker, Kazdal, Daniel, Evert, Matthias, Horst, David, Kreipe, Hans, Kirchner, Thomas, Wardelmann, Eva, Lassen, Ulrik, Buettner, Reinhard, Weichert, Wilko, Dietel, Manfred, Schirmacher, Peter and Stenzinger, Albrecht (2020). Testing NTRK testing: Wet-lab and in silico comparison of RNA-based targeted sequencing assays. Gene Chromosomes Cancer, 59 (3). S. 178 - 189. HOBOKEN: WILEY. ISSN 1098-2264

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Abstract

NTRK fusions involving three neurotrophic tyrosine receptor kinase genes NTRK1, NTRK2, and NTRK3 and a variety of fusion partners were identified as oncogenic drivers across many cancer types. Drugs that target the chimeric protein product require the identification of the underlying gene fusion. This advocates the diagnostic use of molecular assays ranging from fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR)/Sanger approaches to targeted next-generation sequencing (NGS). Immunohistochemistry may be used as a screening tool and adjunct diagnostic assay in this context. Although FISH and RT-PCR/Sanger approaches are widely adopted in routine diagnostics, current experience with targeted RNA-based NGS is limited. Here, we report on the analysis of major assays (TruSight TST170 and TruSight RNA Fusion [Illumina]; Archer FusionPlex Solid Tumor, Archer FusionPlex Lung, and Archer FusionPlex Oncology [Archer]; Oncomine Comprehensive Assay v3 RNA and Oncomine Focus RNA [Thermo Fisher Scientific]) that are commercially available. The data set includes performance results of a multicentric comparative wet-lab study as well as an in silico analysis on the ability to detect the broad range of NTRK fusions reported until now. A test algorithm that reflects assay methodology is provided. This data will support implementation of targeted RNA sequencing in routine diagnostics and inform screening and testing strategies that have been brought forward.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Pfarr, NicoleUNSPECIFIEDorcid.org/0000-0002-5977-5375UNSPECIFIED
Kirchner, MartinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lehmann, UlrichUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Leichsenring, JonasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Merkelbach-Bruse, SabineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Glade, JuliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hummel, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stoegbauer, FabianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lehmann, AnnikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Trautmann, MarcelUNSPECIFIEDorcid.org/0000-0002-5842-1196UNSPECIFIED
Kumbrink, JoergUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jung, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dietmaier, WolfgangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Endris, VolkerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kazdal, DanielUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Evert, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Horst, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kreipe, HansUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kirchner, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wardelmann, EvaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lassen, UlrikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buettner, ReinhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weichert, WilkoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dietel, ManfredUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schirmacher, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stenzinger, AlbrechtUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-127451
DOI: 10.1002/gcc.22819
Journal or Publication Title: Gene Chromosomes Cancer
Volume: 59
Number: 3
Page Range: S. 178 - 189
Date: 2020
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 1098-2264
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
FUSION; GENEMultiple languages
Oncology; Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/12745

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