Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Department of Urology, Indiana University School of Medicine, Indianapolis, IN, USA.
Mod Pathol. 2021 Jul;34(7):1384-1391. doi: 10.1038/s41379-021-00776-z. Epub 2021 Mar 5.
Telomerase reverse transcriptase (TERT) promoter mutations have been implicated in urothelial carcinogenesis and are present in 60-80% of conventional and variants of urothelial carcinomas. We investigated the prevalence of TERT promoter mutations in 46 cases of bladder nonurachal adenocarcinoma, 30 cases of urothelial carcinoma with glandular differentiation, 24 cases of nephrogenic adenoma, eight cases of villous adenoma, 31 cases of florid cystitis glandularis, and 20 cases of intestinal metaplasia of the bladder. TERT promoter mutations were detected in 33% of adenocarcinomas of urinary bladder and in 67% of urothelial carcinomas with glandular differentiation. All 30 cases of urothelial carcinoma with glandular differentiation harbored identical TERT promoter mutation in both glandular and urothelial carcinoma components from the same tumor, suggesting a common clonal origin. TERT promoter mutations were absent in nephrogenic adenoma, villous adenoma, florid cystitis glandularis, and intestinal metaplasia of the bladder. TERT promoter mutation analysis may be a useful ancillary study in the differential diagnosis.
端粒酶逆转录酶 (TERT) 启动子突变与尿路上皮癌的发生有关，存在于 60-80%的传统型和变异型尿路上皮癌中。我们研究了 46 例膀胱非脐尿管腺癌、30 例具有腺体分化的尿路上皮癌、24 例肾源性腺瘤、8 例绒毛状腺瘤、31 例滤泡性膀胱炎和 20 例膀胱肠上皮化生中 TERT 启动子突变的发生率。TERT 启动子突变在膀胱腺癌中的发生率为 33%，在具有腺体分化的尿路上皮癌中的发生率为 67%。来自同一肿瘤的具有腺体分化的尿路上皮癌的所有 30 例均具有相同的 TERT 启动子突变，提示共同的克隆起源。肾源性腺瘤、绒毛状腺瘤、滤泡性膀胱炎和膀胱肠上皮化生中不存在 TERT 启动子突变。TERT 启动子突变分析可能是鉴别诊断的有用辅助研究。
