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Analysis of mutations in EGFR, PIK3CA, BRAF, KRAS genes in patients with small cell lung cancer
https://doi.org/10.25557/2073-7998.2025.06.43-44
Abstract
Lung cancer (LC) is the leading cause of cancer incidence and mortality worldwide. Small cell LC (SCLC) is an aggressive subtype of LC that is initially sensitive to chemotherapy but subsequently becomes chemo-refractory. The aim of the study was to evaluate the frequency of mutations in EGFR, PIK3CA, BRAF, and KRAS genes associated with response to targeted drugs in SCLC patients. The study was performed using real-time PCR. The frequencies of mutations in PIK3CA and KRAS genes in SCLC patients were 5.63% and 1.41%, respectively; no mutations were found in BRAF and EGFR genes. One case of combined carriage of the H1047X mutation in PIK3CA gene and Q61K mutation in KRAS gene was identified.
Supporting agencies: The study was carried out within the state task of the Ministry of Science and Higher Education of the Russian Federation (№1022040500074-9)
About the Authors
A. R. Vafina
Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences
Russian Federation
Russian Federation
Aigul R. Vafina.
71, Pr. Oktyabrya, Ufa, 450054
G. F. Gimalova
Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences
Russian Federation
Russian Federation
71, Pr. Oktyabrya, Ufa, 450054
L. N. Lyubchenko
N.A. Lopatkin Research Institute of Urology and Interventional Radiology – branch of the National Medical Research Radiological Centre of the Ministry of Health of Russia
Russian Federation
Russian Federation
51, build. 1, 3-ya Parkovaya st., Moscow, 105425
E. K. Khusnutdinova
Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences
Russian Federation
Russian Federation
71, Pr. Oktyabrya, Ufa, 450054
References
1. Zullo L., Dall’Olio F.G., Rossi G. et al. Molecular and Genetic Advances in Small Cell Lung Cancer Landscape: From Homogeneity to Diversity. Int J Mol Sci. 2023;25(1):224.
2. Sivakumar S., Moore J.A., Montesion M. et al. Integrative Analysis of a Large Real-World Cohort of Small Cell Lung Cancer Identifies Distinct Genetic Subtypes and Insights into Histologic Transformation. Cancer Discov. 2023;13(7):1572-1591.
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For citations:
Vafina A.R., Gimalova G.F., Lyubchenko L.N., Khusnutdinova E.K. Analysis of mutations in EGFR, PIK3CA, BRAF, KRAS genes in patients with small cell lung cancer. Medical Genetics. 2025;24(6):43-44. (In Russ.) https://doi.org/10.25557/2073-7998.2025.06.43-44
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