MOLECULAR GENETIC PROFILE OF LUNG ADENOCARCINOMA: A REGIONAL EXPERIANCE OF MUTATION DETECTION USING NGS METHOD IN THE REPUBLIC OF TATARSTAN

A.M. Sigal1, 2, N.Z. Sattarova1, 2, M.G. Gordiev3, I.S. Tekhteleva1, A.F. Gilmetdinov1, V.V. Ruchkin1, E.Yu. Mingalimova1, D.R. Zamalyutdinov1, A.K. Luev1, A.I. Khalimov1, L.I. Khaertdinov1, I.D. Khalimov1, B.M. Ziganshin1, K.Yu. Trofimov1, E.R. Salakhutdinov1, 2, B.F. Mostyukov4

1Republic Clinical Oncology Dispensary named after Prof. M.Z. Sigal, Kazan

2Kazan (Volga Region) Federal University, Kazan

3Center for Laboratory Research, Moscow

4KSMA – Branch Campus of the FSBEIFPE RMACPE MOH Russia, Kazan

Sigal A.M. – PhD (Medicine), Associate Professor of the Surgery Department, thoracic surgeon and oncologist at the Oncology Department No. 1

29 Sibirskiy Trakt, 420029 Kazan, Russian Federation, tel.: +7-917-292-93-93, e-mail: sigal2@mail.ru, ORCID ID: 0000-0002-5918-4225, SPIN-code: 6457-2742

The purpose – to determine the spectrum and frequency of mutations within non-small cell lung cancer (NSCLC) using the next-generation sequencing (NGS) method in the Republic of Tatarstan.

Material and methods. The study group consisted of patients with a confirmed diagnosis of non-small cell lung cancer (NSCLC) of stages I–IV who had a sufficient amount of tumor tissue (biopsy or surgical sample) and gave informed consent. The study was based on a prospective analysis of patients who underwent next-generation sequencing (NGS) molecular genetic testing. Between June 2023 and March 2025, a total of 160 individuals were included in the study.

Results. Of the 160 patients included in the study, 141 had some type of mutation, and 52 had co-mutations. The following types of mutations were identified: EGFR (exons 18, 19, 20, and 21), TP53, ALK, KRAS, MET, RET, KEAP1, ERBB2, HER2, STK11, NRAS, BRCA, ROS1, BRAF, and PIK3CA. The most common types of mutations were EGFR (28.8%), TP53 (31.9%), KRAS (16.2%), ALK (9.4%), and CHEK2 (6.9%). The data obtained in this study is generally consistent with the literature data from the Russian and international sources.

Conclusions. The study of the molecular genetic profile of non-small cell lung cancer (NSCLC) in the Republic of Tatarstan revealed a certain frequency of mutations. The frequency characteristics of the main mutations are similar to those found in other Russian regions. A unique feature in this region is an increased frequency of epidermal growth factor receptor (EGFR) mutation compared to other parts of Russia. These findings support the need for including molecular testing as part of the routine diagnostic process for NSCLC.

Key words: lung cancer, new generation sequencing, NGS, regional experience, mutation.