2024 Latin America Conference on Lung Cancer (LALCA) - Posters-PP01.82: Mutational Profiling of Lung Cancer Using Next Generation Sequencing (NGS): A Real-World Clinical Diagnostic Experience among Hispanics

PP01.82: Mutational Profiling of Lung Cancer Using Next Generation Sequencing (NGS): A Real-World Clinical Diagnostic Experience among Hispanics

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This study explores the implementation of Next Generation Sequencing (NGS) for mutational profiling in lung cancer among Hispanic patients, specifically in Colombia. Conducted by researchers from the Foundation for Clinical and Applied Cancer Research and the Thoracic Oncology Unit in Bogotá, it addresses challenges like high costs and preanalytical limitations that hinder accessing advanced molecular testing. The study involved 294 patients with lung adenocarcinoma, utilizing the Oncomine Focus Assay via semiconductor sequencing for molecular diagnosis.<br /><br />Key findings revealed that 11.7% of tests were invalid due to low cellularity or DNA concentration. For valid tests (260 samples), 32.3% had no identifiable driver mutations. Among those with positive results, mutations of the EGFR gene were most prevalent, found in 31.5% of cases. Specific EGFR mutations included exon 19 deletions (54.8%), L858R (29.3%), exon 20 insertions (9.8%), and uncommon variants (6.1%).<br /><br />The study also identified ALK fusions in 5% of cases and other notable genetic alterations such as RET (3.8%), ROS1 (1.9%), and NTRK3 (0.78%). MET exon 14 skipping mutations appeared in 3.5% as sole drivers and in some cases, alongside KRAS and EGFR mutations. KRAS mutations were detected in 13.1% of samples, predominantly G12C (35.3%), G12D (26.5%), and G12V (17.6%).<br /><br />The results underscore the value of NGS in detecting a broad spectrum of actionable mutations and rearrangements, enhancing precision in lung cancer diagnostics. This facilitates more targeted and effective treatment strategies, highlighting the significant impact of adopting advanced sequencing technologies in clinical oncology, particularly in geographically and economically diverse settings.

Asset Subtitle

Alejandro Ruiz Patiño

Keywords

Next Generation Sequencing

lung cancer

Hispanic patients

Colombia

EGFR mutations

ALK fusions

molecular diagnostics

Oncomine Focus Assay

precision oncology

genetic alterations