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, Speel Ernst-Jan M, van IJcken Wilfred F J, Maes Brigitte
Laboratory for Molecular Diagnostics, Department of Clinical Biology, Jessa Hospital, Hasselt, Belgium.
Faculty of Medicine and Life Sciences, University of Hasselt, Belgium.
Mol Oncol. 2025 Jun;19(6):1797-1810. doi: 10.1002/1878-0261.13812. Epub 2025 Jan 31.
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.
通过下一代测序（NGS）进行的体细胞多基因分析已常规应用于医学肿瘤学以辅助临床决策。然而，随着推荐和必需检测基因以及泛癌生物标志物数量的快速增长，小基因 panel 已远远不够。因此，需要进行全面基因组分析（CGP）以筛选临床相关标志物。在这项多中心研究中，我们报告了一项在七个中心开展的广泛分析，该分析比较了新型 OncoDEEP CGP 检测与经过诊断验证的 TruSight Oncology 500（TSO500）试剂盒在 250 个样本上的检测结果。临床相关基因变异的总体一致性为 90%，对于更复杂的生物标志物一致性>96%。对于 11 个重叠的具有临床可操作性的驱动基因，融合检测的一致性为 94%。与 TSO500 相比，OncoDEEP 具有更高的覆盖均匀性，这使得用户在每次测序运行中能够合并更多样本。OncoDEEP 解决方案集成了包括报告在内的三级数据分析，而这对于 TSO500 来说是一个附加功能。最后，我们证明，从分析角度来看，OncoDEEP 基因 panel 表现良好，因此提倡在诊断实验室中将其用于实体瘤的 CGP，为优化患者管理提供一体化解决方案。
