title: TERT promoter mutations in renal cell carcinomas and upper tract urothelial carcinomas.
abstract: 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.
authors.affiliation: Department of Urology, Shandong University Qilu Hospital, Jinan, China.
authors.forename: Kun
authors.initials: K
authors.lastname: Wang
authors.forename: Tiantian
authors.initials: T
authors.lastname: Liu
authors.forename: Li
authors.initials: L
authors.lastname: Liu
authors.forename: Jikai
authors.initials: J
authors.lastname: Liu
authors.forename: Cheng
authors.initials: C
authors.lastname: Liu
authors.forename: Chang
authors.initials: C
authors.lastname: Wang
authors.forename: Nan
authors.initials: N
authors.lastname: Ge
authors.forename: Hongbo
authors.initials: H
authors.lastname: Ren
authors.forename: Keqiang
authors.initials: K
authors.lastname: Yan
authors.forename: Sanyuan
authors.initials: S
authors.lastname: Hu
authors.forename: Magnus
authors.initials: M
authors.lastname: Björkholm
authors.forename: Yidong
authors.initials: Y
authors.lastname: Fan
authors.forename: Dawei
authors.initials: D
authors.lastname: Xu
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000235:genetics*; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000556:secondary / Q000652:urine; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis* / Q000652:urine; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology / Q000652:urine; D007682:Kidney Pelvis; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009367:Neoplasm Staging; D011401:Promoter Regions, Genetic / Q000235:genetics*; D019098:Telomerase / Q000235:genetics*; D014516:Ureteral Neoplasms / Q000235:genetics* / Q000652:urine
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; C509186:TERT protein, human; D019098:Telomerase
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