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.
Using the GeneReader NGS system and QIAact lung all-in-one assay to detect complex mutations and fusions.
Metastatic Non-Small Cell Lung Cancer
Lung Cancer—Non-Small Cell Metastatic
2018 ASCO Annual Meeting
J Clin Oncol 36, 2018 (suppl; abstr e21193)
Author(s): Simon Hughes, Paola Arzuffi, John Blood, Alexander Burton, Vikas Gupta, Dietrich Lueerssen, Leif Schauser, Juergen Lauber; QIAGEN, Manchester, United Kingdom; QIAGEN Manchester, Manchester, United Kingdom; QIAGEN Aarhus, Aarhus, Denmark; Qiagen Manchester Ltd., Manchester, United Kingdom
Background: Lung cancer is the cause of 1 in 5 cancer deaths worldwide and is frequently driven by somatic mutations acquired in key genes. Targeted Next-Generation Sequencing (NGS) is a valuable tool for identifying mutations in these genes and has improved our understanding of disease progression. However, these mutations are not limited to just single nucleotide variants (SNV) or Insertion/Deletions (InDel) but also include complex chromosomal changes such as copy number variants (CNV) and fusions. Methods: The GeneRead QIAact Lung All-in-One Assay has been designed to include 549 DNA variants and 5 CNVs, plus 79 RNA fusions (including MET exon 14 skipping) known to be important in lung cancer. Samples used in this study were formalin-fixed paraffin embedded (FFPE) reference standards, CNV positive cell lines, and FFPE lung cancer samples. Following target enrichment of DNA and RNA using the GeneRead QIAact Lung All-in-One Assay the libraries were sequenced on the GeneReader™ and mutations assessed using QIAGEN Clinical Insight (QCI™) Analyze. Results: To confirm both DNA and RNA mutation detection, Horizon® Discovery Reference Standards containing DNA (SNVs and InDels) and RNA (fusions) mutations, typical of FFPE samples (Quantitative Multiplex and ALK-RET-ROS1 Fusion RNA Reference Standard), and well-characterized cell lines were used. All expected DNA (5% allele frequency threshold appropriate for FFPE DNA) and RNA mutations were repeatedly identified both within and between runs. Testing of clinical samples consistently detected the expected RNA fusions (EML4-ALK) and DNA mutations (EGFR and KRAS mutations) previously identified by FISH or quantitative PCR (QIAGEN therascreen®), respectively. Conclusions: These data showcase the performance reliability of the QIAact All-in-One Assay on the GeneReader NGS System. This is the first study of its kind to systematically demonstrate the ability of a single assay to test for a wide range of mutations including complex chromosomal rearrangements. This allows a laboratory to accurately detect actionable lung cancer mutations with a single NGS assay in one seamless workflow, greatly improving efficiency and effectiveness.
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