Abstract
Introduction
Epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitor (TKI) therapy is effective as a first-line treatment of advanced non-small-cell lung cancer (NSCLC). This research study investigated the distribution of EGFR mutations in patients diagnosed with NSCLC to assist in selecting patients who could benefit from TKI therapy.
Materials and Methods
This cross-sectional study was conducted between July 2017 and November 2022. A real-time multiplex polymerase chain reaction (PCR) assay supplied by Roche Diagnostics was used to examine DNA obtained from 682 tumor biopsies collected from NSCLC patients. DNA amplification was performed in a Cobas z 480 instrument for mutation analysis. The PCR assay was designed using specific primers and probes to detect 43 different mutations targeting exons 18–21.
Results
Among the 682 samples, 466 (68.3%) were males, and 216 were females. The male-to-female ratio was 2.1. About 20% of the male and 37% of the female samples were positive for EGFR mutations. The most common mutations were the in-frame deletion of exon 19, followed by L858R in exon 21, exon 20 insertions, and S769I, exon 18 G719X. In addition, three mutations, namely, del exon 19, T790M, and exon 20 insertions were also detected in a patient, suggesting an actively progressive disease.
Conclusions
This study showed that EGFR mutations are more common in Pakistani female patients than males. Second, in-frame deletion of exon 19 and exon 21 mutation L858R is prevalent in most of the NSCLC patients. The prevalence of common and rare EGFR mutations in Pakistani patients provides an opportunity for a subset of patients’ chance of therapy.