TERT promoter mutations in renal cell carcinomas and upper tract urothelial carcinomas
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Kun Wang1,2,*, Tiantian Liu2,3,*, Li Liu4,*, Jikai Liu1, Cheng Liu2, Chang Wang2, Nan Ge5, Hongbo Ren1, Keqiang Yan1, Sanyuan Hu6, Magnus Björkholm2, Yidong Fan1, Dawei Xu2,5
1 Department of Urology, Shandong University Qilu Hospital, Jinan, China
2 Department of Medicine, Division of Hematology and Centre for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden
3 Department of Microbiology, Shandong University School of Medicine, Jinan, China
4 Shandong University School of Nursing, Jinan, China
5 Department of Urology and Central Research Laboratory, Shandong University Second Hospital, Jinan, China
6 Department of General Surgery, Shandong University Qilu Hospital, Jinan, China
* These authors contributed equally to this work
Dawei Xu, email:
Yidong Fan, email:
Keywords: Promoter mutation, RCC, TERT, Telomerase, UTUC
Received: January 27, 2014 Accepted: March 15, 2014 Published: April 15, 2014
TERT promoter mutations are identified in many malignancies including bladder cancer (BC) and upper tract urothelial carcinoma (UTUC). In contrast, no mutations were found in renal cell carcinoma (RCC) as reported in a recent study. Because the mutant TERT promoter in urine DNA was recently tested as a marker for BC, it is important to ascertain whether these mutations are truly absent in RCCs. Here we determined TERT promoter mutations in 109 patients with RCC and 14 patients with UTUC. The mutations were found in 9/96 (9.3%) clear cell RCC (ccRCC) tumors and 1/8 (13%) chromophobe RCC tumors. Among ccRCC patients, the mutation was correlated with the advanced stages and metastasis, and higher TERT expression. Among UTUCs, the mutation was detected in tumors from 3/5 (60%) patients with renal pelvic cancer and 1/9 (11%) patients with ureter cancer. The mutation was also detected in 1 of 4 urine samples from patients with mutation+ UTUC. Collectively, TERT promoter mutations do occur in RCCs and are associated with aggressive disease. The mutation is more frequent in renal pelvic cancer. Thus, the mutant TERT promoter found in urine may come from not only BC, but also RCC or UTUC.
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