Prevalence of EGFR gene mutations in patients with early-stage resectable non-small cell lung cancer in Spain: the ORIGEN study

Varela, Mar; Arriola Aperribay, Edurne; Nadal, Ernest

doi:http://dx.doi.org/10.21037/tlcr-2024-1146

Prevalence of EGFR gene mutations in patients with early-stage resectable non-small cell lung cancer in Spain: the ORIGEN study

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Varela M, Teixidó C, Álvarez-Fernández C, Arasanz H, Peralta S, Lázaro M, Calvo V, Álvarez R, Baena J, Valdivia J, Arriola E, Bernabé R, Isla D, Camacho C, Massutí B, Blasco A, García T, Cobo M, Campayo M, Hijazo-Pechero S, Callejo Á, Domínguez M, Nadal E. Prevalence of EGFR gene mutations in patients with early-stage resectable non-small cell lung cancer in Spain: the ORIGEN study. Transl Lung Cancer Res. 2025 Apr 30;14(4):1254-65. DOI: 10.21037/tlcr-2024-1146

Abstract

Background: Geographic variability in epidermal growth factor receptor (EGFR) mutation rates in early-stage non-small cell lung cancer (NSCLC) has been reported. However, the frequency of EGFR mutations in patients with early-stage resected NSCLC in Spain has not been previously investigated. We aimed to determine the prevalence of EGFR mutations in patients with early-stage resected NSCLC in Spain. Methods: This was an observational, multicenter, cross-sectional study. Sensitizing EGFR mutations were assessed via real-time polymerase chain reaction (PCR)-based molecular analysis with the IdyllaTM EGFR Mutation Test, and next-generation sequencing (NGS) analysis with the OncomineTM Precision Assay. Results: A total of 172 patients with surgically resected non-squamous NSCLC were analysed. Median age was 67.5 years and 57.6% were male, 96.5% had adenocarcinoma histology and 65% had stage IA/IB. EGFR mutations were found using IdyllaTM EGFR Mutation Test in 25 patients out of 172 patients (14.5%), which consisted of exon 19 deletion in 13 patients (7.6%), exon 21 L858R point mutation in 11 (6.4%), and exon 20 mutation (T790M) in 1 (0.6%) patient. The OncomineTM test was conducted in 128 patients, which detected exon 19 deletions in 10 patients (7.8%), exon 21 mutations in 10 patients (7.8%), and exon 20 insertions in 5 (3.9%) patients. The OncomineTM test was able to detect concurrent mutations in tumor suppressor genes (TP53, PI3KCA, CDKN2A, PTEN) and another actionable alteration beyond EGFR, such as mutations in KRAS G12C (22%), ERBB2 (6%), METex14 (2%), BRAF V600E (2%) and ALK and ROS1 fusions (2%, each). Conclusions: The prevalence of EGFR mutations in early stage (IA-IIIB), resectable, non-squamous NSCLC observed in our study is consistent with that reported in advanced NSCLC in Spain. Molecular testing is crucial in early-stage NSCLC and can be performed either with single-gene testing or NGS. Background: Geographic variability in epidermal growth factor receptor (EGFR) mutation rates in early-stage non-small cell lung cancer (NSCLC) has been reported. However, the frequency of EGFR mutations in patients with early-stage resected NSCLC in Spain has not been previously investigated. We aimed to determine the prevalence of EGFR mutations in patients with early-stage resected NSCLC in Spain. Methods: This was an observational, multicenter, cross-sectional study. Sensitizing EGFR mutations were assessed via real-time polymerase chain reaction (PCR)-based molecular analysis with the IdyllaTM EGFR Mutation Test, and next-generation sequencing (NGS) analysis with the OncomineTM Precision Assay. Results: A total of 172 patients with surgically resected non-squamous NSCLC were analysed. Median age was 67.5 years and 57.6% were male, 96.5% had adenocarcinoma histology and 65% had stage IA/IB. EGFR mutations were found using IdyllaTM EGFR Mutation Test in 25 patients out of 172 patients (14.5%), which consisted of exon 19 deletion in 13 patients (7.6%), exon 21 L858R point mutation in 11 (6.4%), and exon 20 mutation (T790M) in 1 (0.6%) patient. The OncomineTM test was conducted in 128 patients, which detected exon 19 deletions in 10 patients (7.8%), exon 21 mutations in 10 patients (7.8%), and exon 20 insertions in 5 (3.9%) patients. The OncomineTM test was able to detect concurrent mutations in tumor suppressor genes (TP53, PI3KCA, CDKN2A, PTEN) and another actionable alteration beyond EGFR, such as mutations in KRAS G12C (22%), ERBB2 (6%), METex14 (2%), BRAF V600E (2%) and ALK and ROS1 fusions (2%, each). Conclusions: The prevalence of EGFR mutations in early stage (IA-IIIB), resectable, non-squamous NSCLC observed in our study is consistent with that reported in advanced NSCLC in Spain. Molecular testing is crucial in early-stage NSCLC and can be performed either with single-gene testing or NGS.