Author of

• 18974

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  P3.02 - Biology/Pathology (ID 620)

  • Event: WCLC 2017
  • Type: Poster Session with Presenters Present
  • Track: Biology/Pathology
  • Presentations: 1
  • Moderators:
  • Coordinates: 10/18/2017, 09:30 - 16:00, Exhibit Hall (Hall B + C)

  • 24602

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    P3.02-097f - Rare Actionable Mutations in a Lung Adenocarcinoma Cohort in Brazil (ID 9864)

    09:30 - 09:30  |  Author(s): M. Zalis
    • Abstract

    Background:
    The detection of driver mutations and targeted therapy have brought precision medicine into the treatment landscape of non-small cell lung cancer (NSCLC). EGFR mutations and ALK rearrangement were the first actionable driver alterations identified in lung adenocarcinomas. Further actionable mutations include ROS, BRAF, HER2, MET, and RET. These genes are less frequently mutated than EGFR/ALK, nevertheless, each of these mutations appear to be sensitive to clinically available targeted therapies. Brazil has a genetically admixed population and an emerging economy in which access to novel technologies may be limited. Our group have studied different aspects on the implementation of precision medicine to lung cancer patients in the country. Multiplex diagnosis platforms can optimize treatment decisions and we have recently shown it may be cost-effective in the Brazilian context. In this study, using Next Generation Sequencing (NGS), we describe the prevalence of oncogene rare mutations in a representrative Brazilian cohort.
    
    Method:
    We included consecutive adenocarcinoma patients referred to a private reference center in Brazil from November-2015 to May-2017. DNA and RNA were extracted from paraffin-embedded tissue. NGS 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, copy number variations in 19 genes and 23 gene fusions.
    
    Result:
    To date 262-lung adenocarcinoma have been included. Genetic alterations were detected in 72% (189 of 262) of all patients. Corroborating previous data from different groups, including ours, the most common actionable alteration detected in this study were EGFR mutation (23%) and ALK rearrangement (7%). Oncogene rare mutations were detected in 68 patients. HER2 mutations were found in 4% and BRAF in 2% of tested patients. ROS were the second most common fusion (3%) followed by RET (2%) and MET exon 14 mutation in 1.5%. PIK3CA was seen 5% of patients. Other rare mutations such as MTOR, CTNNB1, FGFR2, JAK2, SMO, KIT, IDH1, GNA11, ERBB3, PGFRA, FGFR1 and MAP2K1 were detected each with less than 1%.
    
    Conclusion:
    In a representative Brazilian cohort, the percentage of rare mutations detected matches data published elsewhere. An extended cohort and health economics data will be presented during the meeting and will allow a better description of the rare mutations and the potential impact they may have in the landscape of lung adenocarcinoma treatment in Brazil. These data may support drug access decisions in the country.