Author of

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  P3.04 - Poster Session/ Biology, Pathology, and Molecular Testing (ID 235)

  • Event: WCLC 2015
  • Type: Poster
  • Track: Biology, Pathology, and Molecular Testing
  • Presentations: 1
  • Moderators:
  • Coordinates: 9/09/2015, 09:30 - 17:00, Exhibit Hall (Hall B+C)

  • 15411

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    P3.04-029 - Development of Lung Cancer Diagnosis Panel Based on the Target Sequencing Technology: A Validation Result (ID 1489)

    09:30 - 09:30  |  Author(s): H. Kim
    • Abstract
    • Slides

    Background:
    Recent development of next generation sequencing technologies enabled the accumulation of a lot of information about genomic variants in cancer. However, the price of whole genome / exome sequencing is still high to be used as a diagnostic testing for treatment decision-making.
    
    Methods:
    To develop a clinically useful diagnostic kit, we designed a lung cancer diagnostics (LCDx) panel to discover all coding mutations on 42 genes, MET exon14 skipping and fusion genes involving 4 genes (ALK, RET, ROS1 and AXL). The performance of the panel was tested by using 100 lung cancer tissues and compared the results to those of three different diagnostic platforms, including Sanger sequencing, Ion AmpliSeq Cancer Hotspot Panel (Thermo-Life Technologies) and fluorescence in situ hybridization (FISH).
    
    Results:
    For the detection of EGFR and KRAS mutations, LCDx panel showed 100% sensitivity and specificity. For fusion discovery, the specificity reached 93% but the sensitivity was only 35%, which suggested a novel design of fusion detection method should be addressed for future development.

    EML4-ALK

    	FISH+	FISH-
    LCDx+	8	8	Sensitivity	42.1%
    LCDx-	11	62	Specificity	88.6%

    KIF5B-RET

    	FISH+	FISH-
    LCDx+	1	2	Sensitivity	14.3%
    LCDx-	6	78	Specificity	97.5%

    
    
    Conclusion:
    In our result, we confirmed all the lung cancer mutations currently being examined by multiple clinical assays could be identified by one target sequencing method more accurately and conveniently using LCDx. Our results suggest that, with improvement of fusion discovery, cancer panel such as our LCDx panel, can be used for clinical diagnostics and treatment decision making of non-small cell lung cancer patients.
    
    

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