Academic Journal
Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical diagnostics
| Title: | Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical diagnostics |
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| Authors: | FROYEN, Guy, VOLDERS, Pieter-Jan, GEERDENS, Ellen, Berden, Severine, van der Meulen, Joni, De Cock, Aaron, Vermeire, Stefanie, Van Huysse, Jacques, de Barsy, Marie, Beniuga, Gabriela, de Leng, Wendy W. J., Jansen, Anne M. L., Demers, Imke, Ozgur, Zeliha, Dubbink, Hendrikus Jan, van IJcken, Wilfred F. J., Speel , Ernst-Jan M., MAES, Brigitte |
| Contributors: | Volders, Pieter-Jan/0000-0002-2685-2637, FROYEN, Guy, VOLDERS, Pieter-Jan, GEERDENS, Ellen, Berden, Severine, van der Meulen, Joni, De Cock, Aaron, Vermeire, Stefanie, Van Huysse, Jacques, de Barsy, Marie, Beniuga, Gabriela, de Leng, Wendy W. J., Jansen, Anne M. L., Demers, Imke, Ozgur, Zeliha, Dubbink, Hendrikus Jan, van IJcken, Wilfred F. J., Speel , Ernst-Jan M., MAES, Brigitte |
| Publisher Information: | WILEY |
| Publication Year: | 2025 |
| Collection: | Document Server@UHasselt (Universiteit Hasselt) |
| Subject Terms: | comprehensive genomic profiling (CGP), diagnostic assay validation, next-generation sequencing (NGS), solid tumors |
| Description: | Somatic multigene analysis by next-generation sequencing (NGS) is routinely integrated in medical oncology for clinical decision-making. However, with the fast-growing number of recommended and required genes as well as pan-cancer biomarkers, small panels have become vastly insufficient. Comprehensive genomic profiling (CGP) is, thus, required to screen for clinically relevant markers. In this multicentric study, we report on an extensive analysis across seven centers comparing the results of the novel OncoDEEP CGP assay with the diagnostically validated TruSight Oncology 500 (TSO500) kit on 250 samples. Overall concordance was 90% for clinically relevant gene variants and >96% for more complex biomarkers. Agreement for fusion detection was 94% for the 11 overlapping clinically actionable driver genes. The higher coverage uniformity of OncoDEEP compared to TSO500 allows users to pool more samples per sequencing run. Tertiary data analysis, including reporting, is integrated in the OncoDEEP solution, whereas this is an add-on for TSO500. Finally, we showed that, analytically, the OncoDEEP panel performs well, thereby advocating its use for CGP of solid tumors in diagnostic laboratories, providing an all-in-one solution for optimal patient management. ; The authors would like to thank Louis Delsupehe(Jessa Hospital), and Hanne Meulebrouck and SiebeLoontiens (Ghent University Hospital) for their contri-bution to the study. |
| Document Type: | article in journal/newspaper |
| File Description: | application/pdf |
| Language: | English |
| Relation: | https://hdl.handle.net/1942/45449; 1810; 1797; 19; 001411548100001 |
| DOI: | 10.1002/1878-0261.13812 |
| Availability: | https://hdl.handle.net/1942/45449 https://doi.org/10.1002/1878-0261.13812 |
| Accession Number: | edsbas.D9134947 |
| Database: | BASE |
| DOI: | 10.1002/1878-0261.13812 |
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