EGFR exon mutation distribution and outcome in non-small-cell lung cancer: a Portuguese retrospective study

Abstract

Epidermal growth factor receptor (EGFR) mutations play a predictive role in advanced stages of non-small-cell lung cancer (NSCLC) patients. We conducted this study in order to assess EGFR status in a Portuguese population and its role in NSCLC patients' outcomes. Patients were submitted to EGFR assessment by high-resolution melting and/or direct sequencing. Kaplan-Meier curve was used to assess overall survival and progression-free survival (PFS). Two hundred forty eight out of 322 participants were assessed for EGFR status. Forty-two patients (16.9 %) presented EGFR-mutated status: one patient (2.4 %) presented exon 18; 21 patients (50 %), exon 19; one patient (2.4 %), exon 20; and 18 patients (45.2 %), exon 21 mutations, p < 0.001. PFS was not assessed (n.a.) for patient with exon 18 mutation, and for the other patients with mutations, it was 7 months (3.96-10.03) (exon 19), <1 month (exon 20), and 7 months (0-14.2) (exon 21) (p = 0.027). Overall survival (OS) was 11 months (exon 18), 11 months (1-18) (exon 19), 1 month (exon 20), and 7.5 months (2-70) (exon 21) (p = n.a). This study suggests that the EGFR mutation is herein observed in a higher proportion than expected for a Caucasian population, and OS is a little less than that published in the literature.

EGFR Mutation Status and First-Line Treatment in Patients with Stage III/IV Non–Small Cell Lung Cancer in Germany: An Observational Study

“…Although this EGFR mutation rate is similar to that reported in other studies of Caucasian populations (6,(15)(16)(17), other reports quote 5% to 23% (19,(24)(25)(26)(27)(28). This variability may arise from the design of the studies, which all included fewer patients than the REASON study.…”

“…Mutations conferring sensitivity to TKIs occur in exons 18 to 21 of the EGFR tyrosine kinase domain. The predominant sensitizing mutations are exon 19 deletions (del 19) and the L858R amino acid substitution (exon 21; ref. 7).…”

“…Routine clinical practice management and outcomes data in Caucasian patients with EGFR mutation-positive NSCLC are limited to small, retrospective studies (18,19). The Registry for the Epidemiological and Scientific evaluation of EGFR mutation status in patients with newly diagnosed locally advanced or metastatic NSCLC (REASON) was a noninterventional study (NIS) initiated to address this need for evidence of the epidemiology of EGFR mutation-positive NSCLC and pharmacoeconomic data on EGFR mutation-positive NSCLC.…”

The Impact of Polymorphic Variations in the 5p15, 6p12, 6p21 and 15q25 Loci on the Risk and Prognosis of Portuguese Patients with Non-Small Cell Lung Cancer

“…EGFR mutations in exons 19 and 21 are the most effective, predictive biomarkers of the response to EGFR TKIs for first-line advanced NSCLC treatment [37], [38]. In this context, finding novel predictive biomarkers for overall systemic treatment remains a challenge for clinicians and researchers.…”

The efficacy and safety of immunotherapy in patients with advanced NSCLC: a systematic review and meta-analysis

“…However, the treatment and prognosis of NSCLC are far from satisfactory. About 75% NSCLC cases are diagnosed at an advanced stage with unresectable situation3, and 60‒70% patients who receive surgery finally exhibit postoperative recurrence and metastasis4. Platinum-doublet chemotherapy is the standard first-line treatment for patients with stage IIIB or stage IV NSCLC5, but patients usually suffer from limited efficacy and significant safety issues6.…”