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Diagnostic Pathology

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Open Access 01-12-2020 | Fluorescence in Situ Hybridization | Case Report

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

Authors: Zhongying Guo, Xiaobing Niu, Guangbo Fu, Baoxue Yang, Guangping Chen, Su’an Sun

Published in: Diagnostic Pathology | Issue 1/2020

Abstract

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.

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Title: SLC14A1 (UT-B) gene rearrangement in urothelial carcinoma of the bladder: a case report
Authors: Zhongying Guo
Xiaobing Niu
Guangbo Fu
Baoxue Yang
Guangping Chen
Su’an Sun
Publication date: 01-12-2020
Publisher: BioMed Central
Keywords: Fluorescence in Situ Hybridization
Bladder Carcinoma
Bladder Carcinoma
Urothelial Cancer
Urothelial Cancer
Published in: Diagnostic Pathology / Issue 1/2020
Electronic ISSN: 1746-1596
DOI: https://doi.org/10.1186/s13000-020-01009-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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