2022 World Conference on Lung Cancer (ePosters)-EP16.03-014. Simultaneous Detection of FGFR Gene Aberrations in Squamous Non-small Cell Lung Cancer Using Targeted DNA- and RNA-based NGS

EP16.03-014. Simultaneous Detection of FGFR Gene Aberrations in Squamous Non-small Cell Lung Cancer Using Targeted DNA- and RNA-based NGS

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Researchers from the National Institute of Tuberculosis and Lung Diseases in Warsaw, Poland, and Celon Pharma have developed a method to detect fibroblast tyrosine kinase receptor 1 (FGFR1) amplification and other genetic aberrations in squamous non-small cell lung cancer (Sq-NSCLC). Currently, the reliability of FGFR1 amplification as a biomarker for FGFR inhibitors in Sq-NSCLS is not satisfactory, so this study aimed to comprehensively characterize genetic aberrations of FGFRs and other oncogenesis-related genes to improve predictive assessment and treatment outcomes. <br /><br />The researchers used targeted DNA- and RNA-based next-generation sequencing (NGS) to analyze 15 fresh-frozen Sq-NSCLC tumor samples and corresponding adjacent tissue. The DNA sequencing panel detected hotspot mutations in 15 genes, including KRAS, EGFR, TP53, and BRAF. The RNA sequencing panel detected variants and fusions in 14 genes, including ALK, BRAF, EGFR, and FGFR1-3. Fluorescence in situ hybridization and immunohistochemistry were also used to assess FGFR1 amplification and protein expression.<br /><br />The results showed that TP53 mutations were the most common in the analyzed Sq-NSCLC tumors, while FGFR fusions and pathogenic variants were rare. The study also found that using various methods, such as DNA and RNA analysis, increased the chances of detecting FGFR aberrations, which could improve patient selection for FGFR inhibitor treatment. The researchers emphasized the importance of detailed molecular analysis, especially for tumors that are negative for FGFR1 amplification and FGFR protein expression.<br /><br />Overall, this research provides insights into the presence of various molecular aberrations in Sq-NSCLC and highlights the significance of accurate genetic characterization for personalized treatment approaches. The findings suggest that a comprehensive analysis of DNA and RNA can contribute to the identification of potential therapeutic targets and improve treatment outcomes in patients with Sq-NSCLC.

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Joanna Chorostowska-Wynimko

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Speaker Joanna Chorostowska-Wynimko

Topic Tumour Biology and Biomarkers - Molecular Profiling and Targeted Therapies

Keywords

FGFR1 amplification

genetic aberrations

Sq-NSCLC

predictive assessment

DNA sequencing

RNA sequencing

hotspot mutations

FGFR fusions

pathogenic variants

molecular analysis