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

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 conce...

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Autores principales: Guo, Zhongying, Niu, Xiaobing, Fu, Guangbo, Yang, Baoxue, Chen, Guangping, Sun, Su’an
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7376696/
https://www.ncbi.nlm.nih.gov/pubmed/32703295
http://dx.doi.org/10.1186/s13000-020-01009-8
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author Guo, Zhongying
Niu, Xiaobing
Fu, Guangbo
Yang, Baoxue
Chen, Guangping
Sun, Su’an
author_facet Guo, Zhongying
Niu, Xiaobing
Fu, Guangbo
Yang, Baoxue
Chen, Guangping
Sun, Su’an
author_sort Guo, Zhongying
collection PubMed
description 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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spelling pubmed-73766962020-07-23 SLC14A1 (UT-B) gene rearrangement in urothelial carcinoma of the bladder: a case report Guo, Zhongying Niu, Xiaobing Fu, Guangbo Yang, Baoxue Chen, Guangping Sun, Su’an Diagn Pathol Case Report 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. BioMed Central 2020-07-23 /pmc/articles/PMC7376696/ /pubmed/32703295 http://dx.doi.org/10.1186/s13000-020-01009-8 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Guo, Zhongying
Niu, Xiaobing
Fu, Guangbo
Yang, Baoxue
Chen, Guangping
Sun, Su’an
SLC14A1 (UT-B) gene rearrangement in urothelial carcinoma of the bladder: a case report
title SLC14A1 (UT-B) gene rearrangement in urothelial carcinoma of the bladder: a case report
title_full SLC14A1 (UT-B) gene rearrangement in urothelial carcinoma of the bladder: a case report
title_fullStr SLC14A1 (UT-B) gene rearrangement in urothelial carcinoma of the bladder: a case report
title_full_unstemmed SLC14A1 (UT-B) gene rearrangement in urothelial carcinoma of the bladder: a case report
title_short SLC14A1 (UT-B) gene rearrangement in urothelial carcinoma of the bladder: a case report
title_sort slc14a1 (ut-b) gene rearrangement in urothelial carcinoma of the bladder: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7376696/
https://www.ncbi.nlm.nih.gov/pubmed/32703295
http://dx.doi.org/10.1186/s13000-020-01009-8
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