SLC14A1 (UT-B) gene rearrangement in urothelial carcinoma of the bladder: a case report

• Published in: Diagnostic pathology 2020-07, Vol.15 (1), p.94-94, Article 94
• Main Authors: Guo, Zhongying, Niu, Xiaobing, Fu, Guangbo, Yang, Baoxue, Chen, Guangping, Sun, Su'an
• Format: Article
• Language: English
• Subjects: Artificial chromosomes; Bladder; Bladder cancer; BRCA1 protein; Cancer; Cancer genetics; Carcinoma; Carcinoma in Situ - pathology; Carcinoma, Transitional Cell - genetics; Carcinoma, Transitional Cell - pathology; Case Report; Case reports; Cell injury; Chromosome 18; Deoxyribonucleic acid; DNA; DNA damage; DNA probes; ErbB-2 protein; Fluorescence; Fluorescence in situ hybridization; GATA-3 protein; Gene mutation; Gene rearrangement; Gene Rearrangement - genetics; Genes; Genetic aspects; Genetic research; Genome-wide association studies; Genomes; Genomics; Hematuria; Histology; Humans; Hybridization; Injury prevention; Invasiveness; Lesions; Male; Membrane Transport Proteins - genetics; Metabolism; Middle Aged; Muscles; Mutation; Orifices; Patients; Tumorigenesis; Urea; Urea Transporters; Ureas; Ureter; Urinary Bladder - pathology; Urinary Bladder Neoplasms - genetics; Urinary Bladder Neoplasms - pathology; Urine; Urologic Neoplasms - genetics; Urologic Neoplasms - pathology; Urothelial cancer; Urothelial carcinoma; Urothelium; Urothelium - pathology
• ISSN: 1746-1596; 1746-1596
• DOI: 10.1186/s13000-020-01009-8

Bladder cancer (BC) is a common and deadly disease. Over the past decade, a number of genetic alterations have been reported in BC. Bladder urothelium expresses abundant urea transporter UT-B encoded by Slc14a1 gene at 18q12.3 locus, which plays an important role in preventing high concentrated urea-caused cell injury. Early genome-wide association studies (GWAS) showed that UT-B gene mutations are genetically linked to the urothelial bladder carcinoma (UBC). In this study, we examined whether Slc14a1 gene has been changed in UBC, which has never been reported. A 59-year-old male was admitted to a hospital with the complaint of gross hematuria for 6 days. Ultrasonography revealed a size of 2.8 × 1.7 cm mass lesion located on the rear wall and dome of the bladder. In cystoscopic examination, papillary tumoral lesions 3.0-cm in total diameter were seen on the left wall of the bladder and 2 cm to the left ureteric orifice. Transurethral resection of bladder tumor (TURBT) was performed. Histology showed high-grade non-muscle invasive UBC. Immunostaining was negative for Syn, CK7, CK20, Villin, and positive for HER2, BRCA1, GATA3. Using a fluorescence in situ hybridization (FISH), Slc14a1 gene rearrangement was identified by a pair of break-apart DNA probes. We for the first time report a patient diagnosed with urothelial carcinoma accompanied with split Slc14a1 gene abnormality, a crucial gene in bladder.