Abstract
BackgroundBladder 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.Case presentationA 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.ConclusionsWe for the first time report a patient diagnosed with urothelial carcinoma accompanied with split Slc14a1 gene abnormality, a crucial gene in bladder.
Highlights
Urothelial bladder carcinoma (UBC) is the sixth most common cancer and occurs more often in men than in women
We for the first time report a patient diagnosed with urothelial carcinoma accompanied with split Slc14a1 gene abnormality, a crucial gene in bladder
We found urea transporter (UT)-B gene rearrangement occurred in one urothelial bladder carcinoma (UBC) patient from 14 cases
Summary
Urothelial bladder carcinoma (UBC) is the sixth most common cancer and occurs more often in men than in women. We designed a pair of Slc14a1 gene break-apart DNA probes and performed fluorescence in situ hybridization (FISH). We found UT-B gene rearrangement occurred in one UBC patient from 14 cases. This is the first report of genomic abnormalities of split SLC14A1 gene identified in UBC. Molecular findings FISH was performed using Slc14a1 break-apart rearrangement dual color probe in this experiment. The hybridization signals of Slc14a1 break-apart probe showed two very close red and green colors with partially overlapped yellow colors indicating normal unbroken Slc14a1 gene. From total 14 cases of UBC patients, we found that one patient (case report in this study) demonstrated break-apart signal patterns of Slc14a1 gene (Fig. 2b)
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
