文章：

NPM1突变型急性髓系白血病：在新型治疗策略时代解析其分子与临床谜题

NPM1-Mutated AML: Deciphering the Molecular and Clinical Puzzle in the Era of Novel Treatment Strategies

原文发布日期：23 June 2025

DOI: 10.3390/cancers17132095

类型: Article

开放获取: 是

英文摘要：

The aberrant localization of the mutatednucleophosmin(NPM1) protein in the cytoplasm is the hallmark of the development of acute myeloid leukemia (AML); the gene, located in the nucleolus, codes for a protein that normally shuttles between the nucleus and the cytoplasm of the normal hematopoietic cells. Patients harboringNPM1mutations are diagnosed as havingNPM1-mutated AMLs, which are types of leukemia with distinct clinical and laboratory characteristics. The essential diagnostics for investigatingNPM1-mutated AMLs, the interactions with concomitant mutations affecting prognosis and the therapeutic interventions that the treatment of such patients requires are discussed in this review. Novel investigational agents in current clinical trials are also highlighted, along with the roles of exportin 1 (XPO1), menin-KMT2A inhibitors and immunotherapy inNPM1-mutated AMLs. This review focuses on critically evaluating the available data and aims to reveal the secrets ofNPM1-mutated AMLs.

摘要翻译： 

突变核磷蛋白（NPM1）在细胞质中的异常定位是急性髓系白血病（AML）发生的重要标志；该基因定位于核仁，其编码的蛋白在正常造血细胞中通常穿梭于细胞核与细胞质之间。携带NPM1突变的患者被诊断为NPM1突变型AML，这类白血病具有独特的临床和实验室特征。本综述探讨了NPM1突变型AML的核心诊断方法、影响预后的伴随突变相互作用以及治疗此类患者所需的干预策略，同时重点介绍了当前临床试验中的新型研究药物，并阐述了输出蛋白1（XPO1）、menin-KMT2A抑制剂及免疫疗法在NPM1突变型AML中的作用。本文旨在通过批判性评估现有数据，揭示NPM1突变型AML的发病机制。

原文链接：

NPM1-Mutated AML: Deciphering the Molecular and Clinical Puzzle in the Era of Novel Treatment Strategies