Prevalence of EGFR gene mutations in Ukrainian patients with locally advanced or metastatic non-small cell lung cancer

Shparyk Ya.V.1, Ponomareva O.V.2, Sokolov V.V.3, Kobzev O.Y.4, Sukhoversha O.A.5, Borysiuk B.O.6, Voitko V.O.7, Severhyn V.Ye.8, Rosliakova T.V.9, Kuznetsova O.V.10, Krulko S.I.11, Zaplatyna S.V.12, Zovtun V.V.13, Shapochka D.O.14

Summary. Actuality. Mutation of the epidermal growth factor receptor (EGFR) plays an important role in the processes of oncogenesis, in particular in non-small-cell lung cancer (NSCLC). The prevalence of EGFR mutations in the general population NSCLC patients is 15–35% and depends on the histological subtype of the tumor, ethnicity, sex and smoking status. Patients with NSCLC and EGFR mutations are recommended to be prescribed target drugs — EGFR tyrosine kinase inhibitors (TKIs), which affect these mutations and significantly improve the progression free survival. Therefore, all leading international oncology guidelines (ESMO, NCCN, IASLC) recommend EGFR mutations testing in patients with locally advanced NSCLC. Aim. The aim of this retrospective study was to identify the prevalence of EGFR gene mutations among Ukrainian patients with locally advanced or metastatic NSCLC (histological subtype — adenocarcinoma), and to estimate the frequency of EGFR gene mutations depending on age and sex. Materials and methods. The study included patients with locally advanced or metastatic NSCLC (histological type — adenocarcinoma), whose tumor samples on the basis of physician advise were taken (histological or cytological material) for testing for mutations in the EGFR gene, which was performed by the SensiScreen test kit® EGFR (EXON 19 Deletions + T790M + L858R) Multiplex FFPE Real-time PCR Kit (CE IVD), a real-time polymerase chain reaction (PCR) method to detect driver mutations (deletions in exon 19 and point mutations in L858R in 21 exons) in patients who did not receive TKI, and resistance mutation T790M, in patients who received TKI 1st or 2nd generation. Results. During the study, samples of material were obtained from 308 patients, the average age of patients was 59.2 years (20–40 years — 15/281 (5%), 41–50 years — 42/281 (15%), 51–60 years — 83/281 (30%), 61–70 years — 110/281 (39%), 71–86 years — 31/281 (11%). 302/308 (98%) samples were histological, 6/308 (2%) samples were cytological. Valid for molecular genetic analysis to determine mutations in the EGFR gene were 290/308 (94%) samples; 282/290 (97%) samples were from patients who did not receive TKI EGFR therapy, 8/290 (3%) samples were from patients who had disease progression on therapy with TKI EGFR 1 or 2 generation. Mutations in the EGFR gene were detected in 58/290 (20%) patients, 54/282 (19.1%) patients had EGFR driver mutations, 4/8 (50%) had a resistance mutation T790M, 26/54 (48.1%) patients had a deletion in exon 19, 28/54 (51,9%) of patients had mutation in the 21 exon of EGFR (L858R). The prevalence of mutations in EGFR gene in women with NSCLC were significantly higher — 33.9% compared to men — 8.2% (p<0.0001). The highest nominal percentage of detection of EGFR mutations (25%) was in patients aged 51–60 years, but the prevalence of EGFR mutations depending on age was not significant (p=0.460). Conclusions. EGFR mutations were observed in 1/5 of Ukrainian patients with NSCLC (adenocarcinoma), and their prevalence was higher among women and did not depend on the age of patients. This emphasizes the importance of testing patients with NSCLC (adenocarcinoma) for EGFR mutations to personalize therapy and improve outcomes.

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