According to the 2016 World Health Organization (WHO) classification of central nervous system tumors, diffuse astrocytic and oligodendroglial tumors are differentiated by the presence of isocitrate dehydrogenase 1 or 2 (IDH1/2) mutation and the combined loss of the short arm of chromosome 1 and the long arm of chromosome 19 (1p/19q co-deletion). IDH-mutant astrocytoma often has p53 and alpha-thalassemia/mental retardation syndrome X-linked (ATRX) mutation, showing the alternative lengthening of telomeres (ALT) phenotype, while IDH-mutant and 1p/19q-co-deleted oligodendroglioma often have wild-type p53 and telomerase reverse transcriptase (TERT) promoter mutation, showing telomerase activation. This study analyzed IDH, ATRX, and TERT promoter mutations, and the correlation between them. Immortalized cells overcome the telomere-related crisis by activating telomerase or ALT. In glioma, telomerase is mainly activated by TERT promoter mutation, while ALT is usually associated with ATRX mutation. Although the mechanism of how ATRX mutation induces ALT remains unclear, ATRX loss alone is believed to be insufficient to induce ALT. Treatments targeting telomere maintenance are promising.

中文翻译：

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胶质瘤中 IDH、ATRX 和 TERT 启动子突变之间的相关性。

根据 2016 年世界卫生组织 (WHO) 中枢神经系统肿瘤分类，弥漫性星形胶质细胞和少突胶质细胞肿瘤通过异柠檬酸脱氢酶 1 或 2 ( IDH1/2 ) 突变和 1 号染色体短臂联合缺失来区分和 19 号染色体的长臂（1p/19q 共缺失）。IDH突变型星形细胞瘤通常具有p53和α-地中海贫血/智力迟钝综合征 X 连锁( ATRX ) 突变，显示端粒 (ALT) 表型交替延长，而IDH突变型和 1p/19q 共缺失少突胶质细胞瘤通常具有野生型- 型p53和端粒酶逆转录酶（TERT）启动子突变，显示端粒酶激活。本研究分析了IDH、ATRX和TERT启动子突变，以及它们之间的相关性。永生化细胞通过激活端粒酶或 ALT 来克服端粒相关的危机。在胶质瘤中，端粒酶主要由TERT启动子突变激活，而 ALT 通常与ATRX突变相关。尽管ATRX突变如何诱导 ALT 的机制仍不清楚，但仅 ATRX 缺失被认为不足以诱导 ALT。针对端粒维持的治疗是有希望的。