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NPM1 基因突变在 AML 中的意义。

Significance of NPM1 Gene Mutations in AML.

机构信息

Clinical Haematology, Belfast City Hospital, Belfast BT9 7AB, UK.

Centre for Medical Education, Queen's University Belfast, Belfast BT7 1NN, UK.

出版信息

Int J Mol Sci. 2021 Sep 17;22(18):10040. doi: 10.3390/ijms221810040.

Abstract

The aim of this literature review is to examine the significance of the nucleophosmin 1 () gene in acute myeloid leukaemia (AML). This will include analysis of the structure and normal cellular function of NPM1, the type of mutations commonly witnessed in , and the mechanism by which this influences the development and progression of AML. The importance of mutation on prognosis and the treatment options available to patients will also be reviewed along with current guidelines recommending the rapid return of mutational screening results and the importance of employing a suitable laboratory assay to achieve this. Finally, future developments in the field including research into new therapies targeting mutated AML are considered.

摘要

本次文献回顾的目的在于研究核仁磷酸蛋白 1(Nucleophosmin 1,NPM1)基因在急性髓系白血病(Acute Myeloid Leukaemia,AML)中的意义。这将包括 NPM1 的结构和正常细胞功能分析、常见的 NPM1 突变类型以及这些突变影响 AML 发生和发展的机制。还将回顾 NPM1 突变对预后的重要性和患者可用的治疗选择,以及推荐快速返回 NPM1 突变筛查结果的现行指南和实现这一目标的合适实验室检测方法的重要性。最后,还将考虑该领域的未来发展,包括针对 NPM1 突变的 AML 的新疗法研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ac0/8467861/8ea86e75672c/ijms-22-10040-g001.jpg

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