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Date Published: 15/02/2024
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DOI: https://doi.org/10.51298/vmj.v535i1B.8401
Issue
Vol. 535 No. 1B (2024)
Section
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How to Cite
Lương, B. A., Hồ, Q. C., Dương, B. T., hoàng, A. V., & Trần, K. T. (2024). STUDYING OF THE DETECTION OF TERT PROMOTER MUTATIONS IN GLIOMAS PATIENTS BY USING SANGER SEQUENCING. Vietnam Medical Journal, 535(1B). https://doi.org/10.51298/vmj.v535i1B.8401

STUDYING OF THE DETECTION OF TERT PROMOTER MUTATIONS IN GLIOMAS PATIENTS BY USING SANGER SEQUENCING

Bắc An Lương, Quốc Chương Hồ, Bích Trâm Dương, Anh Vũ hoàng, Kim Tuyến Trần

Main Article Content

Abstract

Introduction: Glioma is one of the most lethal cancers, accounting for more than 40% of primary malignant brain tumors. Telomerase reverse transcriptase promoter (pTERT) mutations, especially C228T and C250T, frequently occur in many cancers, including gliomas. These mutations create a novel ETS1 binding site, leading to increased telomerase expression, directly contributing to tumorigenesis. The presence of pTERT mutations correlates with the presence of other biomarkers, such as IDH1, 1p19q, TP53, EGFR provide valuable insights into the disease. Screening for the presence of variants in pTERT may enhance prognosticate patients which may, in turn, improve clinical outcome. Objective: To study the proportion of C228T and C250T mutations in TERT promoter in DNA obtained from patients with gliomas. Methods: A cross-sectional descriptive study was conducted using 83 FFPE tissue samples from gliomas diagnosised patients. Sanger sequencing was used to identify C228T and C250T mutation in TERT promoter. Results: 27/83 (32.53%) patients had mutations in the TERT promoter. Among the mutated cases, 17/83 (20.48%) patients had the C228T mutation, and 10/83 (12.05%) cases had the C250T mutation. Conclusion: Initial research described the rate of mutations in TERT promoter in gliomas patients in Viet Nam.

Article Details

Keywords

Gliomas, TERT, C228T, C250T, pTERT.

References

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