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Laura Moliner

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    P2.09 - Pathology (ID 174)

    • Event: WCLC 2019
    • Type: Poster Viewing in the Exhibit Hall
    • Track: Pathology
    • Presentations: 1
    • Moderators:
    • Coordinates: 9/09/2019, 10:15 - 18:15, Exhibit Hall
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      P2.09-34 - Next-Generation Sequencing Implementation in Non-Small Cell Lung Cancer Molecular Diagnosis (ID 2337)

      10:15 - 18:15  |  Author(s): Laura Moliner

      • Abstract
      • Slides


      Currently, all patients with advanced non-small cell lung cancer (NSCLC) require EGFR, ALK, ROS1 and BRAF molecular characterization. Next-generation sequencing (NGS) allows the simultaneous analysis of these biomarkers optimizing both the sample and the economic cost. The purpose of this study was to compare NGS results with those obtained using single gene analysis in a prospective clinical setting.


      During 12 months, 50 paraffin-embedded samples from patients with advanced NSCLC (46 adenocarcinomas and four NSCLC-NOS) were prospectively analyzed in our institution. Molecular characterization was carried out using the NGS Oncomine Solid Tumor DNA and Fusion Transcript Kits for hotspot mutations and gene fusions (Thermo Fisher) and results were compared with Therascreen EGFR RGQ PCR Kit (Qiagen), and Vysis ALK and ROS1 Break Apart FISH Probe Kits (Abbott Molecular, ZytoVision).


      All samples studied by NGS for hotspot mutations were assessable and we detected pathogenic alterations in 90% (n= 45). Regarding targetable alterations, we identified nine patients harboring EGFR mutations (18%), in agreement with real-time PCR (except for one case which had an exon 20 insertion not interrogated by Therascreen), and one patient with a BRAF mutation (2%). We highlight the presence of TP53 mutations in 27 cases (54%), KRAS in 16 cases (32%) and STK11 in three cases (6%). TP53 mutations were concomitant with other alterations in 70% of the cases (n= 19), without being significantly associated with any of them. Gene fusion analysis by NGS was assessable in 80% of the samples (n= 40): six samples had insufficient RNA quality and four had not enough material. We detected only one case with an ALK rearrangement (2%), confirmed by FISH.


      NGS technology for NSCLC molecular diagnosis could be considered as the initial screening test although the success rate in gene fusion assessment is closely related to RNA paraffin-embedded evaluation. NGS also detected other genomic alterations that allowed referral of patients to clinical trials.

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