期刊
ONCOTARGET
卷 5, 期 23, 页码 12428-12439出版社
IMPACT JOURNALS LLC
DOI: 10.18632/oncotarget.2660
关键词
Cancer biomarkers; Promoter mutations; Telomerase; TERT; UTUC
资金
- National Basic Research Program of China [2012CB911202]
- National Natural Science Foundation of China (973 Program) [81071721 81272814, 81372765]
- Independent Innovation Foundation of Shandong University
- IIFSDU [2012TS094]
- Swedish Cancer Society
- Swedish Research Council
- Cancer Society in Stockholm
- Stockholm County Council
- Karolinska Institutet
- Adolf H. Lundin Charitable Foundation
TERT promoter C228T and C250T mutations occur in various malignancies including bladder cancer (BC) and may serve as urinary tumor markers. However, the mutation association with clinical variables in upper tract urothelial carcinomas (UTUCs) is unclear. There is also a lack of sensitive tools to detect the minor mutant TERT promoter in bulk urinary DNA. Here we analyzed 220 UTUC patients [98 with renal pelvic carcinoma (RPC) and 122 with ureter carcinoma (UC)] and developed a Competitive Allele-Specific TaqMan PCR (castPCR) for urinary assay. We identified C228T or C250T mutations in 42 of 98 (43%) RPC and 23 of 122 (19%) UC tumors. Distant metastases were significantly correlated with UTUC patients harboring TERT promoter mutations (P = 0.001). C228T were detected in 6/10 and 9/10 of urine samples from patients with mutation-carrying tumors using Sanger sequencing and castPCR, respectively. When urine samples from 70 BC patients were analyzed together, the sensitivity of urinary C228T assay was 89% and 50% for castPCR and Sanger sequencing, respectively (P < 0.001). Collectively, TERT promoter mutations occur in UTUCs with a high frequency in RPCs and predict distant metastasis. castPCR assays of the mutation are a useful tool for urine-based diagnostics of urological malignancies.
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