Article Sidebar

pdf
Date Published: 27/01/2025
Abstract Views: 179
Views pdf: 108
DOI: https://doi.org/10.51298/vmj.v546i1.12545
Issue
Vol. 546 No. 1 (2025)
Section
Các bài báo
How to Cite
Lê, H., Lê, M. H., Nguyễn, V. H. V., & Trần, K. C. (2025). IDENTIFICATION OF GENETIC ALTERATIONS ASSOCIATED WITH NON-SMALL-CELL LUNG CANCER BY NEXT-GENERATION SEQUENCING. Vietnam Medical Journal, 546(1). https://doi.org/10.51298/vmj.v546i1.12545

IDENTIFICATION OF GENETIC ALTERATIONS ASSOCIATED WITH NON-SMALL-CELL LUNG CANCER BY NEXT-GENERATION SEQUENCING

Hoàn Lê, Minh Hằng Lê, Vũ Hoàng Việt Nguyễn, Khánh Chi Trần

Main Article Content

Abstract

Objective: To identify the rate of certain genetic alterations associated with non-small cell lung cancer. Subjects and Methods: A cross-sectional descriptive study involving 165 patients with non-small cell lung cancer at Hanoi Medical University Hospital, who were tested for genetic alterations using Next-Generation Sequencing. Results: EGFR gene mutation was found in 39% of cases; KRAS gene mutation in 16%; ALK gene fusion in 7%; PIK3CA gene mutation in 2%; BRAF gene mutation in 1%, and ROS-1 gene fusion in 1%. A separate analysis of EGFR mutations revealed: L858R (55.1%); 19 Del (33.3%); 20 Ins (4.3%); A750P (4.3%); G719D (2.9%); G719A (1.5%); E709G (1.5%); E790K (1.5%); S768A (1.5%) and T790M (1.5%). Conclusion: EGFR mutations are the most common mutations in patients with non-small cell lung cancer, with L858R and Exon 19 deletions (19 Del) being the most common types of this gene mutation.

Article Details

Keywords

Lung cancer, Genetic mutations, Gene fusions, Next-Generation Sequencing (NGS)

References

1. Sung H. Ferlay J., Siegel RL., et al. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries CA Cancer J Clin. 2021 May;71(3):209-249. DOI: 10.3322/caac.21660.
2. Chevallier M, Borgeaud M, Addeo A, et al. Oncogenic driver mutations in non-small cell lung cancer: Past, present and future. World J Clin Oncol. 2021 Apr 24; 12(4): 217–237. DOI: 10.5306/wjco.v12.i4.217
3. Kumar Ashwini, Kumar Awanish. Non-small-cell lung cancer-associated gene mutations and inhibitors. Advances in Cancer Biology - Metastasis, 6 (2022) 100076. DOI:10.1016/ j.adcanc.2022.100076.
4. Lewandowska MA, Jóźwicki W, Jochymski C, et al. Application of PCR methods to evaluate EGFR, KRAS and BRAF mutations in a small number of tumor cells in cytological material from lung cancer patients. Oncol Rep. 2013 Sep; 30(3): 1045-1052. DOI: 10.3892/or.2013.2579
5. Pisapia P, Lozano MD, Vigliar E, et al. ALK and ROS1 testing on lung cancer cytologic samples: Perspectives. Cancer Cytopathol . 2017 Nov;125(11):817-830. DOI: 10.1002/cncy.21899.
6. Cainap C, Balacescu O, Cainap SS, et al. Next Generation Sequencing Technology in Lung Cancer Diagnosis. Biology (Basel). 2021 Sep; 10(9): 864. DOI: 10.3390/biology10090864.
7. Sauter JL, Dacic S, Galateau-Salle F, et al. The 2021 WHO Classification of Tumors of the Pleura: Advances Since the 2015 Classification. J Thorac Oncol. 2022 May;17(5):608-622. DOI: 10.1016/j.jtho.2021.12.014.
8. Trần Huy Thịnh, Lê Hoàn, Trần Vân Khánh. Tỷ lệ đột biến EGFR và đột biến dung hợp gen ALK, ROS-1 ở bệnh nhân ung thư phổi không tế bào nhỏ. Tạp chí Y học Việt Nam. 2022; 514(2): 189-193. DOI: https://doi.org/10.51298/vmj. v514i2.2626.
9. Nguyễn Hoàng Bắc, Nguyễn Hữu Huy, Mai Thị Bích Chi và cộng sự. Khảo sát một số đặc điểm cận lâm sàng và tình trạng đột biến gen EGFR, KRAS ở bệnh nhân ung thư phổi không tế bào nhỏ. Tạp chí Y học Việt Nam. 2023; 525(2): 90-93. DOI: https://doi.org/10.51298/vmj. v525i2.5176.
10. Colombino M, Paliogiannis P, Cossu A, et al. (). EGFR, KRAS, BRAF, ALK, and cMET genetic alterations in 1440 Sardinian patients with lung adenocarcinoma. BMC pulmonary medicine. 2019; 19(1), 1-10. DOI: 10.1186/s12890-019-0964-x.