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Author Notes:

Correspondence: gchen3@emory.edu

Author contributions: ZG, XN carried out the experiments and data collection; GF, BY, GC, SS analyzed and interpreted data; GC, SS concepted and designed the experiments; GC, SS wrote the manuscript. All authors have read and approved the manuscript.

Disclosures: The authors declare that they have no competing interests.


Research Funding:

This work was supported by grants from Huai’an Promotion Project for science and technology international cooperation (HAC201708) to S.S. Natural Science Foundation of Huai’an (HAB201801) to X. L

National Natural Science Foundation of China 81620108029 to B.Y. Emory URC grant 13492009 to G.C.

The funds provided were used to finance laboratory expenses (materials and reagents). The funder had no role in the design of the study, the collection of data, the analysis and interpretation of results, or in writing the manuscript.


  • Science & Technology
  • Life Sciences & Biomedicine
  • Pathology
  • Bladder
  • Urothelial cancer
  • Fluorescence in situ hybridization
  • Gene rearrangement
  • Genome-wide association
  • Urea transporter
  • Cancer
  • Identification
  • Biomarkers

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


Journal Title:

Diagnostic Pathology


Volume 15, Number 1


, Pages 94-94

Type of Work:

Article | Final Publisher PDF


Background 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. Case presentation 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. Conclusions We for the first time report a patient diagnosed with urothelial carcinoma accompanied with split Slc14a1 gene abnormality, a crucial gene in bladder.

Copyright information:

© The Author(s). 2020.

This is an Open Access work distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/).
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