端粒酶反转录酶启动子突变在肿瘤发生中的研究进展

Research Progress of the TERT Promoter Mutations in Tumor Genesis

端粒酶催化端粒延长能维持染色体组的完整性,是肿瘤发生的重要生物学标志。端粒酶反转录酶(TERT)是端粒酶中的催化亚单位,其活性在多数体细胞中受到抑制,在肿瘤细胞中TERT基因过表达的确切机制尚不清楚。在黑色素瘤细胞中存在TERT启动子突变,且具有较高的复现率。另外,TERT启动子突变还广泛存在于神经胶质瘤等多类肿瘤中,可激活TERT,且与肿瘤的恶性程度密切相关。

The elongation of telomere catalyzed by telomerase maintains genomic integrity, which is an important biomarker of tumor genesis. Telomerase reverse transcriptase（TERT） is the catalytic subunit in telomerases with its activity repressed in most somatic cells. However, the precise mechanism behind the TERT gene over-expression in tumors has mostly remained unknown. Recently, highly recurrent TERT pro- moter mutations were found in melanoma. Further researches have proved that such mutation lies in a variety types of tumors like glioma, which activates the TERT and attributes to the malignancy.