CELL INTELLIGENCE · 肿瘤细胞治疗研究
肿瘤细胞治疗研究
AML 中的 NPM 1 突变——2023 年图景
英文原题：NPM 1 Mutations in AML-The Landscape in 2023.
查看英文原题
NPM 1 Mutations in AML-The Landscape in 2023.
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中文摘要
急性髓系白血病（AML）约占成人急性白血病的80%，其特征为造血干细胞发生基因组突变后克隆性扩增，使突变克隆获得选择性生长优势。约30%的AML患者存在NPM1突变，临床表现为白细胞增多、原始细胞比例高和髓外受累。NPM1突变被视为“守门员”突变，似乎是白血病发生及显性白血病形成过程中的“首击”。在AML中，NPM1突变常与其他突变同时出现（如FLT3、DNMT3A、TET2和SF3B1），对诊断、预后、治疗及治疗后监测具有重要意义。目前正处于不同临床阶段的多种NPM1靶向新疗法正在开发中，并已显示疗效。本综述总结AML中NPM1基因突变的病理生理机制、临床意义及迄今出现的新型靶向疗法。
展开英文摘要原文
Acute myeloid leukemia (AML) represents 80% of acute leukemia in adults and is characterized by clonal expansion of hematopoietic stem cells secondary to genomic mutations, rendering a selective growth advantage to the mutant clones. NPM1 mut is found in around 30% of AML and clinically presents with leukocytosis, high blast percentage and extramedullary involvement. Considered as a "gate-keeper" mutation, NPM1 mut appears to be a "first hit" in the process of leukemogenesis and development of overt leukemia.
Commonly associated with other mutations (e. g. , FLT 3, DNMT3A, TET2, SF3B1), NPM1 mutation in AML has an important role in diagnosis, prognosis, treatment and post-treatment monitoring. Several novel therapies targeting NPM1 are being developed in various clinical phases with demonstration of efficacy. In this review, we summarize the pathophysiology of the NPM1 gene mutation in AML, clinical implications and the novel targeted therapies to date.
论文信息
- 作者
- Sharma N、Liesveld JL
- 第一作者单位
- Department of Hematology and Oncology, University of Massachusetts-Baystate Medical Center, Springfield, MA 01199, USA.United States
- 通讯作者单位
- Department of Medicine, Hematology/Oncology, James P. Wilmot Cancer Institute, University of Rochester, Rochester, NY 14642, USA.United States
- 文献类型
- 综述
- 期刊
- Cancers2023 Feb 12
- 原文标识
- PubMed 36831522 · DOI 10.3390/cancers15041177
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