2024 World Conference on Lung Cancer (WCLC) - ePosters-EP.06F.03 Analysis of Copy Number Variations of MET, EGFR and ERBB2 Genes in a Lung Cancer Patient Series: Comparison of FISH with NGS

EP.06F.03 Analysis of Copy Number Variations of MET, EGFR and ERBB2 Genes in a Lung Cancer Patient Series: Comparison of FISH with NGS

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The study conducted by Simonetta Buglioni at the IRCCS Regina Elena National Cancer Institute in Italy focused on the analysis of Copy Number Variations (CNVs) in MET, EGFR, and ERBB2 genes in a series of lung cancer patients, comparing the use of Fluorescence In Situ Hybridization (FISH)—the standard method for detecting gene amplification—with Next-Generation Sequencing (NGS). <br /><br />The main aim was to validate the detection of CNVs via NGS, which, despite being recommended for molecular profiling of advanced non-small-cell lung cancer (NSCLC) by ESMO, has its role in identifying CNVs yet unclear.<br /><br />In this study, 34 advanced-stage lung cancer patients were assessed. The analysis revealed a 74% raw agreement between FISH and NGS for the MET gene, with NGS effectively identifying MET gene status accurately in all cases with normal CNV but showing limitations in detecting polysomy compared to FISH. For the EGFR gene, an agreement of 79% was found between the two methods, with similar challenges in identifying polysomy using NGS. The ERBB2 analysis demonstrated a 78% agreement, with FISH confirming its superiority in differentiating between polysomy and other CN aberrations.<br /><br />The study concluded that while both methods align in detecting normal and altered gene copy numbers, particularly in non-polysomic contexts, the FISH remains crucial for detecting polysomy. This limitation of NGS with a 50-gene panel suggests that it cannot replace FISH, especially for differentiating complex gene amplifications like polysomy. FISH maintains its status as the gold standard method for identifying and characterizing gene CNVs in the context of polysomy, supplementing any limitations of molecular profiling through NGS.

Asset Subtitle

Simonetta Buglioni

Meta Tag

Speaker Simonetta Buglioni

Topic Pathology and Biomarkers

Keywords

Copy Number Variations

CNVs

MET gene

EGFR gene

ERBB2 gene

Fluorescence In Situ Hybridization

FISH

Next-Generation Sequencing

NGS

lung cancer