Document Type : Research Articles
Authors
1
Department of Clinical Laboratory Science, College of Pharmacy, University of Basrah, Basrah, Iraq.
2
Department of Biochemistry, College of Medicine, University of Al-Nahrain, Baghdad, Iraq.
3
Department of Surgery, College of Medicine, University of Basrah, Basrah, Iraq.
4
F.I.C.M.S. Urologist, Alsader Teaching Hospital, Basrah, Iraq.
Abstract
Objective: This work aimed to find the incidence of TERT promoter mutations in a specific patient population and to analyze their association with various tumor characteristics.Methods: This study, conducted from April to November 2023, involved collecting 67 formalin-fixed, paraffin-embedded (FFPE) tissue samples from patients undergoing transurethral bladder resection or radical cystectomy at the Urology Department of Almawaddah Private Hospital, Basra, Iraq. The extraction of DNA was achieved through the use of purification Promega kits. TERT gene promoter mutations, C228T AND C250T were determined by Sanger sequencing using an automated DNA sequencer, by Macrogen Corporation – Korea. Result: Among 67 bladder cancer patients, valid pTERT molecular analysis was completed in 59 cases. Of these, 30 patients (50.85%) were found to have pTERT mutations. The most common mutation was C228T, identified in 70% (21/30) of cases, followed by C250T in 33.3% (10/30), with one patient exhibiting both mutations. No significant associations were found between TERT mutations and factors such as age, sex, or smoking status. However, these mutations were more frequently observed in low-grade tumors, occurring in 63.3% (19/30) of cases. Additionally, the prevalence of TERT mutations differed significantly between non-muscle-invasive bladder cancer (NMIBC) and muscle-invasive bladder cancer (MIBC), with mutations detected in 60.4% (26/42) of NMIBC cases and 23.5% (4/17) of MIBC cases (p = 0.027). Although a slight difference in mutation frequency was noted between newly diagnosed and recurrent tumors, it did not reach statistical significance. Conclusion: this study demonstrates a substantial prevalence of TERT promoter mutations particularly the C228T variant in bladder cancer, which was more frequently found in NMIBC compared to MIBC. No correlations were identified between TERT mutations and demographic factors such as age, sex, or smoking history.
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