title: TERT promoter mutations and TERT mRNA but not FGFR3 mutations are urinary biomarkers in Han Chinese patients with urothelial bladder cancer.
abstract: The TERT promoter and FGFR3 gene mutations are two of the most common genetic events in urothelial bladder cancer (UBC), and these mutation assays in patient urine have been shown to be promising biomarkers for UBC diagnosis and surveillance. These results were obtained mainly from studies of patients with UBC in Western countries, and little is known about such information in Han Chinese patients with UBC. In the present study, we addressed this issue by analyzing tumors from 182 Han Chinese patients with UBC and urine samples from 102 patients for mutations in the TERT promoter and FGFR3 and TERT mRNA expression in tumors and/or urine. TERT promoter and FGFR3 mutations were identified in 87 of 182 (47.8%) and 7 of 102 (6.7%) UBC cases, respectively. In 46 urine samples from patients with TERT promoter mutation-carrying tumors, the mutant promoter was detected in 24 (52%) prior to operation and disappeared in most examined urine samples (80%) taken 1 week after operation. TERT mRNA was detected in urine derived from 46 of 49 patients (94%) that was analyzed before operation independently of the presence of TERT promoter mutations. Collectively, FGFR3 mutations occur at a very low rate in Han Chinese UBC and cannot serve as diagnostic markers for Chinese patients. Han Chinese patients with UBC have relatively low TERT promoter mutation frequency compared with patients in Western countries, and simultaneous detection of both mutant TERT promoter and TERT mRNA improves sensitivity and specificity of urine-based diagnosis.
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden.
authors: Kun
authors: K
authors: Wang
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden.
authors: Tiantian
authors: T
authors: Liu
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden.
authors: Cheng
authors: C
authors: Liu
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden fanyd@sdu.edu.cn mengyan2000@126.com.
authors: Yan
authors: Y
authors: Meng
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden.
authors: Xiaotian
authors: X
authors: Yuan
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden.
authors: Li
authors: L
authors: Liu
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden.
authors: Nan
authors: N
authors: Ge
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden.
authors: Jikai
authors: J
authors: Liu
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden.
authors: Chang
authors: C
authors: Wang
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden.
authors: Hongbo
authors: H
authors: Ren
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden.
authors: Keqiang
authors: K
authors: Yan
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden.
authors: Sanyuan
authors: S
authors: Hu
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden.
authors: Zhonghua
authors: Z
authors: Xu
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden fanyd@sdu.edu.cn mengyan2000@126.com.
authors: Yidong
authors: Y
authors: Fan
authors: Departments of Urology and General Surgery, Qilu Hospital, Department of Pathology, School of Medicine, and Department of Urology, Second Hospital, Shandong University, Jinan, People's Republic of China; Department of Medicine, Division of Hematology and Center for Molecular Medicine, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden.
authors: Dawei
authors: D
authors: Xu
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology; D014408:Biomarkers, Tumor / Q000235:genetics / Q000652:urine; D002295:Carcinoma, Transitional Cell / Q000235:genetics* / Q000473:pathology; D002681:China / Q000208:ethnology; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009364:Neoplasm Recurrence, Local; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D012333:RNA, Messenger / Q000235:genetics*; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics* / Q000652:urine*; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA; D019098:Telomerase / Q000235:genetics* / Q000652:urine*; D001749:Urinary Bladder Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D014408:Biomarkers, Tumor; D012333:RNA, Messenger; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3; C509186:TERT protein, human; D019098:Telomerase
keywords: FGFR3; TERT; Telomerase; Urinary markers; Urothelial bladder cancer
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