Department of Pathology, Huai'an First People's Hospital, Nanjing Medical University, Huai'an, 223300, China.
Department of Urology, Huai'an First People's Hospital, Nanjing Medical University, Huai'an, 223300, China.
Diagn Pathol. 2020 Jul 23;15(1):94. doi: 10.1186/s13000-020-01009-8.
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.
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.
We for the first time report a patient diagnosed with urothelial carcinoma accompanied with split Slc14a1 gene abnormality, a crucial gene in bladder.
膀胱癌（BC）是一种常见且致命的疾病。在过去的十年中，已经报道了许多 BC 的基因改变。膀胱尿路上皮在 18q12.3 位点表达大量由 Slc14a1 基因编码的尿素转运体 UT-B，该基因在防止高浓度尿素引起的细胞损伤中起重要作用。早期全基因组关联研究（GWAS）表明，UT-B 基因突变与尿路上皮膀胱癌（UBC）在遗传上有关。在这项研究中，我们检查了 Slc14a1 基因是否在 UBC 中发生了改变，这是以前从未报道过的。
一名 59 岁男性因血尿 6 天就诊。超声检查显示膀胱后壁和穹窿处有一个 2.8×1.7cm 的肿块。在膀胱镜检查中，可见左侧壁有 3.0cm 总直径的乳头状肿瘤病变和左侧输尿管口 2cm 处有肿瘤病变。行经尿道膀胱肿瘤切除术（TURBT）。组织学显示高级别非肌肉浸润性 UBC。免疫组化Syn、CK7、CK20、Villin 均为阴性，HER2、BRCA1、GATA3 均为阳性。采用荧光原位杂交（FISH），用一对断裂 DNA 探针鉴定 Slc14a1 基因重排。
我们首次报道了一例诊断为伴有 Slc14a1 基因异常的尿路上皮癌的患者，Slc14a1 基因是膀胱中的关键基因。
