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M. Reis



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    P1.02 - Poster Session with Presenters Present (ID 454)

    • Event: WCLC 2016
    • Type: Poster Presenters Present
    • Track: Biology/Pathology
    • Presentations: 1
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      P1.02-083 - Gene Fusion Profile in Lung Adenocarcinoma Patients in Brazil (ID 6071)

      14:30 - 14:30  |  Author(s): M. Reis

      • Abstract

      Background:
      The detection of driver mutations and targeted therapy have transformed the landscape of treatment of non-small cell lung cancer (NSCLC). In addition to EGFR mutation oncogene fusions such as ALK, RET, ROS and others have been identified as targetable genetic aberrations in NSCLC. Access to personalized therapy could be increased with the help of multiplex diagnosis platforms able to detect multiple druggable gene fusions simultaneously. In this study, using Next Generation Sequencing (NGS), we describe the prevalence of oncogene fusions in a Brazilian cohort.

      Methods:
      We included consecutive adenocarcinoma patients referred to a private reference center in Brazil from November-2015 to June-2016. DNA and RNA were extracted from paraffin-embedded tissue from core biopsy or fine needle aspiration specimens. Next generation sequencing was performed for target regions using the Oncomine® Focus Assay on an Ion PGM platform. This panel evaluates 132 hotspot sites of driver mutations in 35 genes, gene copy number variations in 19 genes and 23 gene fusions.

      Results:
      So far 115-lung adenocarcinoma have been included. Genetic alterations were detected in 72 % (82 of 115) of all patients. The most common genetic alteration detected in this study were KRAS (22%) and EGFR mutations (20%). Oncogene fusions were detected in 13% (15 of 115) of patients. ALK were the most common fusion (7%) followed by RET (3%) and ROS (3%). Of note a FGFR2 fusion detected in a adenocarcinoma patient at odds with previous reports limiting this type of fusion to squamous histology. In contrast no other protein kinase fusions, such as NTRK1, AXL-MBIP and SCAF-PDGFRA were detected in this initial cohort.d.

      Conclusion:
      In a representative Brazilian cohort, the percentage of ALK, RET and ROS fusions detected matches data published elsewhere. An extended cohort will be presented during the meeting and will allow a better description of rarer fusions.