Objective: To investigate the gene mutation of telomerase reverse transcriptase (TERT) promoter in inverted urothelial lesions of the bladder and its significance in differential diagnosis. Methods: From March 2016 to February 2022, a total of 32 patients with inverted urothelial lesions diagnosed in Department of Pathology at Qingdao Chengyang People's Hospital and 24 patients at the Affiliated Hospital of Qingdao University were collected, including 7 cases of florid glandular cystitis, 13 cases of inverted urothelial papilloma, 8 cases of inverted urothelial neoplasm with low malignant potential, 17 cases of low-grade non-invasive inverted urothelial carcinoma, 5 cases of high-grade non-invasive inverted urothelial carcinoma, and 6 cases of nested subtype of urothelial carcinoma were retrospectively analyzed for their clinical data and histopathological features. TERT promoter mutations were analyzed by Sanger sequencing in all the cases. Results: No mutations in the TERT promoter were found in the florid glandular cystitis and inverted urothelial papilloma. The mutation rates of the TERT promoter in inverted urothelial neoplasm with low malignant potential, low grade non-invasive inverter urothelial carcinoma, high grade non-invasive inverted urothelial carcinoma and nested subtype urothelial carcinoma were 1/8, 8/17, 2/5 and 6/6, respectively. There was no significant difference in the mutation rate of TERT promoter among inverted urothelial neoplasm with low malignant potential, low-grade non-invasive inverted urothelial carcinoma, and high-grade non-invasive inverted urothelial carcinoma (P>0.05). All 6 cases of nested subtype of urothelial carcinoma were found to harbor the mutation, which was significantly different from inverted urothelial neoplasm with low malignant potential and non-invasive inverted urothelial carcinoma (P<0.05). In terms of mutation pattern, 13/17 of TERT promoter mutations were C228T, 4/17 were C250T. Conclusions: The morphology combined with TERT promoter mutation detection is helpful for the differential diagnosis of bladder non-invasive inverted urothelial lesions.
目的： 探讨端粒酶逆转录酶（TERT）启动子在膀胱内翻性尿路上皮病变中的突变情况及其在鉴别诊断中的意义。 方法： 收集2016年3月至2022年2月青岛市城阳区人民医院32例及青岛大学附属医院24例病理科诊断为膀胱内翻性尿路上皮病变56例，包括7例旺炽性腺性膀胱炎、13例内翻性尿路上皮乳头状瘤、8例内翻性低度恶性潜能的尿路上皮肿瘤、17例低级别非浸润性内翻性尿路上皮癌、5例高级别非浸润性内翻性尿路上皮癌及6例巢状亚型尿路上皮癌，总结其临床资料及组织病理学特征，并通过一代测序分析TERT启动子突变情况。 结果： 旺炽性腺性膀胱炎和内翻性尿路上皮乳头状瘤中均未发现有TERT启动子突变，TERT启动子在内翻性低度恶性潜能的尿路上皮肿瘤、低级别和高级别非浸润性内翻性尿路上皮癌以及巢状亚型尿路上皮癌中的突变比例分别为1/8、8/17、2/5和6/6。TERT启动子突变比例在内翻性低度恶性潜能的尿路上皮肿瘤、低级别以及高级别非浸润性内翻性尿路上皮癌之间差异均无统计学意义（P>0.05）。巢状亚型尿路上皮癌中6例全部突变，与内翻性低度恶性潜能的尿路上皮肿瘤和非浸润性内翻性尿路上皮癌突变比例相比，差异有统计学意义（P<0.05）。突变形式上，TERT启动子突变13/17为C228T，4/17为C250T。 结论： 形态学结合TERT启动子突变检测有助于对膀胱非浸润性内翻性尿路上皮病变的鉴别诊断。.