Publication-only abstracts (abstract number preceded by an "e"), published in conjunction with the 2018 ASCO Annual Meeting but not presented at the Meeting, can be found online only.
Implementation of the genereader NGS system in a molecular pathology laboratory.
Molecular Diagnostics and Imaging
2018 ASCO Annual Meeting
J Clin Oncol 36, 2018 (suppl; abstr e24175)
Author(s): Andreas Bösl, Maria Pfisterer, Agnes Neugebauer, Constanze Nemes, Johanna Schneider, Christina Steger, Felix Offner; Institut für Pathologie Landeskrankenhaus Feldkirch, Molekularpathologisches Labor, Feldkirch, Austria; Institut für Pathologie Landeskrankenhaus Feldkirch, Feldkirch, Austria
Background: The goal of this study was to evaluate and implement an NGS System, the GeneReader (Qiagen, Hilden, Germany) in a routine molecular laboratory, to compare its performance to other methodologies, and to use the system in the identification of key tumor mutations for personalized cancer care. Methods: Reference standards (n = 2), FFPE tumor (n = 50; colorectal cancer (CRC) n = 29; lung cancer n = 10; melanoma n = 11) and liquid biopsies (n = 20; CRC n = 15, lung n = 5) samples with known mutations in various cancer driver genes (BRAF, EGFR, KRAS and NRAS) were used in this study. All samples were processed following the manufacturer’s instructions, and their mutational status compared with previous results. Furthermore, interpretation of the variant findings was performed using the QIAGEN Clinical Insight Interpret (QCII) software, to provide actionable recommendations for each sample based on its mutational profile. Results: All previously known mutations were correctly confirmed with the GeneReader NGS workflow, making it a reliable system for routine cancer mutational analysis. Importantly, in 6% (3/50) of the samples, NGS identified additional pathogenic mutations previously missed by single-analyte pyrosequencing. These results suggest an NGS approach can more sensitively and accurately detect mutations and potentially broaden clinical options. Furthermore, 50% (10/20) of liquid biopsies harbored pathogenic mutations, 30% (3/10) of which were not found in tumor mass analysis from the same individuals. As such, liquid biopsy not only provides an additional sample source for analysis, but also additional insights into full cancer mutational profile. Conclusions: The GeneReader NGS system provides a solution for cancer testing with low hands-on time and high accuracy. Such NGS approach also allows a more sensitive way of detecting critical cancer mutations. Additionally, the application of this technology in liquid biopsies enables a more accurate and comprehensive understanding of the cancer molecular profile, supporting individualized clinical therapeutic decisions.