TERT Promoter Mutations Present in 60-80% of Bladder Cancers, Detectable Via Liquid Biopsy
This review systematically analyses TERT promoter mutation prevalence across 7,259 urinary tract cases and evaluates detection platforms for clinical use. TERT promoter mutations occur in 60-80% of bladder cancers and are present across the full spectrum of urothelial lesions including precursor conditions. Detection of these mutations from urine or plasma cell-free DNA offers a promising liquid biopsy approach for bladder cancer screening, surveillance, and monitoring treatment response.
The original study
Biological and clinical perspectives of TERT promoter mutation detection on bladder cancer diagnosis and management.
- Authors
- Cheng L, Zhang S, Wang M, Lopez-Beltran A
- Journal
- Human pathology
- Type
- Journal Article, Review
- PMID
- 35700749
Original abstract
The telomerase reverse transcriptase (TERT) promoter mutations are associated with increased TERT mRNA and TERT protein levels, telomerase activity, and shorter but stable telomere length. TERT promoter mutation is the most common mutation that occurs in approximately 60-80% of patients with bladder cancer. The TERT promoter mutations occur in a wide spectrum of urothelial lesions, including benign urothelial proliferation and tumor-like conditions, benign urothelial tumors, premalignant and putative precursor lesions, urothelial carcinoma and its variants, and nonurothelial malignancies. The prevalence and incidence of TERT promoter mutations in a total of 7259 cases from the urinary tract were systematically reviewed. Different platforms of TERT promoter mutation detection were presented. In this review, we also discussed the significance and clinical implications of TERT promoter mutation detection in urothelial tumorigenesis, surveillance and early detection, diagnosis, differential diagnosis, prognosis, prediction of treatment responses, and clinical outcome. Identification of TERT promoter mutations from urine or plasma cell-free DNA (liquid biopsy) will facilitate bladder cancer screening program and optimal clinical management. A better understanding of TERT promoter mutation and its pathway would open new therapeutic avenues for patients with bladder cancer.