Department of Gastroenterology and Neurology, Kagawa University, Kagawa, Japan.
Department of Pathology and Host-Defense, Faculty of Medicine, Kagawa University, Kagawa, Japan.
In Vivo. 2022 Jan-Feb;36(1):94-102. doi: 10.21873/invivo.12680.
BACKGROUND/AIM: The promoter region of the telomerase reverse transcriptase (TERT) gene is a regulatory element capable of affecting TERT expression, telomerase activity, and telomerase length. Mutations within the TERT promoter region are the most common mutations in many cancers. In this study, we characterized the TERT promoter mutation status in hepatobiliary, pancreatic, and gastrointestinal cancer cell lines.
TERT promoter mutation status was assessed by digital PCR in 12 liver cancer, 5 cholangiocarcinoma (CCA), 12 pancreatic cancer, 17 gastrointestinal cancer, and 3 healthy control cell lines.
The C228T promoter mutation was detected in 9 liver cancer lines, and the C250T TERT mutation was detected in 1 oesophageal squamous cell carcinoma line.
The C228T promoter mutation is specific to liver cancer cell lines among various gastrointestinal cancer cell lines. These data will contribute to future research on the tumorigenic mechanisms and clinical use of digital PCR to detect mutations.
背景/目的：端粒酶逆转录酶（TERT）基因的启动子区域是一个调节元件，能够影响 TERT 表达、端粒酶活性和端粒酶长度。TERT 启动子区域内的突变是许多癌症中最常见的突变。在这项研究中，我们对肝胆胰和胃肠道癌细胞系中的 TERT 启动子突变状态进行了特征描述。
通过数字 PCR 评估了 12 个肝癌、5 个胆管癌（CCA）、12 个胰腺癌、17 个胃肠道癌和 3 个健康对照细胞系中的 TERT 启动子突变状态。
在 9 个肝癌系中检测到 C228T 启动子突变，在 1 个食管鳞状细胞癌细胞系中检测到 C250T TERT 突变。
C228T 启动子突变是各种胃肠道癌细胞系中肝癌细胞系特有的。这些数据将有助于进一步研究肿瘤发生机制以及数字 PCR 检测突变的临床应用。
