EGFR mutation analysis on circulating free DNA in NSCLC: a single-center experience

Area of Science:

• Oncology
• Molecular Diagnostics
• Genetics

Background:

• Monitoring mutation status in circulating free DNA (cfDNA) is crucial for effective target therapy in non-small cell lung cancer (NSCLC).
• Epidermal growth factor receptor (EGFR) mutations are key drivers in a subset of NSCLC patients, making their monitoring essential.

Purpose of the Study:

• To determine if changes in EGFR mutational status detected in cfDNA during treatment have predictive value in NSCLC.
• To assess the impact of cfDNA EGFR mutation status changes on clinical management decisions for NSCLC patients.

Main Methods:

• Inclusion of 30 patients with EGFR-mutated NSCLC.
• Collection of blood samples at diagnosis (T0) and during therapy (T1) from 19 patients.
• Analysis of EGFR mutation status in cfDNA from collected samples.

Main Results:

• A concordance of 79% for EGFR mutation status between T0 and T1 samples (n=19).
• Sensitivity of 100% and specificity of 60.0% for cfDNA EGFR mutation detection.
• Survival outcomes analysis revealed differences in progression-free survival (PFS) and overall survival (OS) based on cfDNA mutation status at T1.

Conclusions:

• EGFR mutation status can be reliably assessed using cfDNA for routine clinical monitoring.
• Longitudinal assessment of plasma EGFR mutation status via cfDNA is a practical method to monitor therapeutic response and detect resistance.
• Monitoring cfDNA EGFR mutations offers valuable insights for personalized NSCLC treatment strategies.