| 贾潘丽,邝新红,伍 瑶,孙 立,袁胜涛.IDH基因突变与肿瘤关系的研究进展[J].,2018,(22):4397-4400 |
| IDH基因突变与肿瘤关系的研究进展 |
| Progress on Relationship Between IDH Gene Mutation and Tumor |
| 投稿时间：2018-02-03 修订日期：2018-02-26 |
| DOI：10.13241/j.cnki.pmb.2018.22.045 |
| 中文关键词: 肿瘤 异柠檬酸脱氢酶 突变 2-羟基戊二酸 |
| 英文关键词: Tumor IDH Mutation 2-HG |
| 基金项目: |
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| 中文摘要: |
| 摘要：肿瘤是严重危害人类生命健康的恶性疾病，其发病率和死亡率逐年升高。目前，越来越多的研究表明异柠檬酸脱氢酶（Isocitrate dehydrogenase，IDH）基因突变与肿瘤的发生发展密切相关。IDH突变主要发生在胶质瘤、急性髓系白血病及软骨肉瘤、肝内胆管癌等恶性肿瘤中。IDH突变后催化?琢-酮戊二酸（?琢-Ketoglutaric acid, ?琢-KG）生成2-羟基戊二酸（2-Hydroxyglutarate, 2-HG），2-HG在体内蓄积可引起一系列的下游效应，最终促进肿瘤的发生与发展。因此，对IDH突变的研究有助于深入了解肿瘤的发病机制，并为肿瘤的治疗提供潜在靶点。本文就IDH基因突变与肿瘤关系的研究进展以及针对IDH突变的药物开发的研究现状进行综述，以期为肿瘤的临床治疗和IDH突变的分子靶向抑制剂的研究提供思路。 |
| 英文摘要: |
| ABSTRACT: Tumor is a malignant disease that seriously endangers human life and health, with increasing morbidity and mortality. Researches indicate a close relationship between IDH mutation and tumor formation and development. IDH mutations occur mainly in gliomas, acute myeloid leukemia, chondrosarcoma, intrahepatic cholangiocarcinoma and other malignant tumors. The enzymatic activity of IDH will change after gene mutation and IDH mutations could catalyze ?琢-KG into 2-HG. The intracellular accumulation of 2-HG will induce a series of downstream effects, and ultimately causing tumorigenesis and progression. Therefore, the study of IDH mutations will contribute to understanding the pathogenesis of tumor, and IDH mutation may be a potential target for tumor therapy. In this review, we focus on the progress of relationship between IDH gene mutation and tumor, and attempt to provide insights for the clinical treatment of tumors and research about molecular targeting inhibitors of IDH mutations. |
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