PMID- 32703295
OWN - NLM
STAT- MEDLINE
DCOM- 20210608
LR  - 20231213
IS  - 1746-1596 (Electronic)
IS  - 1746-1596 (Linking)
VI  - 15
IP  - 1
DP  - 2020 Jul 23
TI  - SLC14A1 (UT-B) gene rearrangement in urothelial carcinoma of the bladder: a case 
      report.
PG  - 94
LID - 10.1186/s13000-020-01009-8 [doi]
LID - 94
AB  - 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 x 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.
FAU - Guo, Zhongying
AU  - Guo Z
AD  - Department of Pathology, Huai'an First People's Hospital, Nanjing Medical 
      University, Huai'an, 223300, China.
FAU - Niu, Xiaobing
AU  - Niu X
AD  - Department of Urology, Huai'an First People's Hospital, Nanjing Medical 
      University, Huai'an, 223300, China.
FAU - Fu, Guangbo
AU  - Fu G
AD  - Department of Urology, Huai'an First People's Hospital, Nanjing Medical 
      University, Huai'an, 223300, China.
FAU - Yang, Baoxue
AU  - Yang B
AD  - Department of Pharmacology, School of Basic Medical Sciences, Peking University, 
      Beijing, 100191, China.
FAU - Chen, Guangping
AU  - Chen G
AUID- ORCID: 0000-0003-4178-4529
AD  - Department of Physiology, Emory University School of Medicine, Atlanta, GA, 
      30322, USA. gchen3@emory.edu.
FAU - Sun, Su'an
AU  - Sun S
AD  - Department of Pathology, Huai'an First People's Hospital, Nanjing Medical 
      University, Huai'an, 223300, China. hayyssa@163.com.
LA  - eng
GR  - HAC201708/Huai'an Promotion Project for science and technology international 
      cooperation/
GR  - HAB201801/Natural Science Foundation of Huai'an/
GR  - 81620108029/National Natural Science Foundation of China/
GR  - URC13492009/Emory University/
PT  - Case Reports
PT  - Journal Article
DEP - 20200723
PL  - England
TA  - Diagn Pathol
JT  - Diagnostic pathology
JID - 101251558
RN  - 0 (Membrane Transport Proteins)
SB  - IM
MH  - Carcinoma in Situ/pathology
MH  - Carcinoma, Transitional Cell/genetics/pathology
MH  - Gene Rearrangement/*genetics
MH  - Humans
MH  - Male
MH  - Membrane Transport Proteins/*genetics
MH  - Middle Aged
MH  - Urinary Bladder/*pathology
MH  - Urinary Bladder Neoplasms/*genetics/pathology
MH  - Urologic Neoplasms/*genetics/pathology
MH  - Urothelium/pathology
MH  - Urea Transporters
PMC - PMC7376696
OTO - NOTNLM
OT  - Bladder
OT  - Fluorescence in situ hybridization
OT  - Gene rearrangement
OT  - Urothelial cancer
COIS- The authors declare that they have no competing interests.
EDAT- 2020/07/25 06:00
MHDA- 2021/06/09 06:00
PMCR- 2020/07/23
CRDT- 2020/07/25 06:00
PHST- 2020/04/13 00:00 [received]
PHST- 2020/07/14 00:00 [accepted]
PHST- 2020/07/25 06:00 [entrez]
PHST- 2020/07/25 06:00 [pubmed]
PHST- 2021/06/09 06:00 [medline]
PHST- 2020/07/23 00:00 [pmc-release]
AID - 10.1186/s13000-020-01009-8 [pii]
AID - 1009 [pii]
AID - 10.1186/s13000-020-01009-8 [doi]
PST - epublish
SO  - Diagn Pathol. 2020 Jul 23;15(1):94. doi: 10.1186/s13000-020-01009-8.