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Huijuan Ge

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    Lunch & Poster Display session (ID 58)

    • Event: ELCC 2019
    • Type: Poster Display session
    • Track:
    • Presentations: 1
    • Moderators:
    • Coordinates: 4/11/2019, 12:30 - 13:00, Hall 1
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      9P - Clinical validation of an NGS-based assay for detecting multiple genomic alterations in Chinese patients with non-small cell lung cancer (ID 487)

      12:30 - 13:00  |  Presenting Author(s): Huijuan Ge

      • Abstract
      • Slides


      Patients with non-small cell lung cancer (NSCLC) often harbors driver mutations in multiple oncogenes, including EGFR, KRAS, ALK, ROS1, BRAF, HER2, RET, etc. Driver genetic alterations are used as predictive biomarkers for molecular targeted therapies. Therefore, identifying mutations in oncogenes and tailoring therapy accordingly become a standard in clinical cancer management. A genetic testing assay based on next-generation sequencing (NGS) technology, named AmoyDx Essential NGS Panel, has been developed for multiplexed and targeted deep sequencing of variants in 10 driver genes. Clinical validation was conducted in the present study.

      a9ded1e5ce5d75814730bb4caaf49419 Methods

      A total of 372 formalin-fixed and paraffin-embedded (FFPE) tissue samples collected from Chinese patients with NSCLC were detected by AmoyDx Essential NGS Panel, which enables the simultaneous detection of single-nucleotide variants (SNVs), insertions/deletions and fusions in 10 driver genes (EGFR, KRAS, NRAS, BRAF, PIK3CA, ALK, ROS1, HER2, RET, and MET) in DNA samples. DNA sequencing was performed on the Illumina platform. Golden standard Sanger sequencing as reference method was used as a reference method to test the same cohort. The concordance of variants determined with the AmoyDx Essential NGS Panel was assessed compared to the reference method.

      20c51b5f4e9aeb5334c90ff072e6f928 Results

      In total of 372 samples, 98.39% (366/372) of patients were successfully detected by both AmoyDx Essential NGS Panel and Sanger sequencing. 73.50% (269/366) were identified to shown variants by NGS as listed in the table . The overall concordance rate of mutations determined with AmoyDx Essential NGS Panel compared with reference was 98.80%.

      fd69c5cf902969e6fb71d043085ddee6 Conclusions

      The NGS analysis with AmoyDx Essential NGS Panel represents an accurate and efficient approach to detect genomic alterations in 10 driver genes with high concordance rate of 98.80% compared with Sanger sequencing.

      b651e8a99c4375feb982b7c2cad376e9 Legal entity responsible for the study

      Amoy Diagnostics Co., Ltd.

      213f68309caaa4ccc14d5f99789640ad Funding

      Has not received any funding.

      682889d0a1d3b50267a69346a750433d Disclosure

      H. Ge, L. Ruan, Q. Gao, X. Yang, W. Shi, X. Li, G. Zhu: Employee: Amoy Diagnostics Co., Ltd. All other authors have declared no conflicts of interest.

      Table: 9P Variants detected by NGS

      Variant typeNumber of patientsPositive rate
      EGFR mutation21057.38%
      KRAS mutation226.01%
      NRAS mutation00.00%
      BRAF mutation71.91%
      PIK3CA mutation51.37%
      ALK fusion133.55%
      ROS1 fusion10.27%
      HER2 mutation82.19%
      RET fusion61.64%
      MET mutation10.27%


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