NPM1 突变的急性髓系白血病 (AML) 是成人 AML 最大的分子亚组。 NPM1 突变的 AML 可以通过分子技术和免疫组织化学来识别，两者结合起来可以解决困难的诊断问题（包括识别骨髓肉瘤和外显子 12 外的 NPM1 突变）。根据 2022 年欧洲白血病网 (ELN)，确定 NPM1（和 FLT3）的突变状态是基于基因的 AML 风险分层的强制性步骤。通过 RT-qPCR 监测 MRD，结合 ELN 风险分层，可以指导缓解后阶段的治疗决策。在这里，我们回顾了 NPM1 突变 AML 的适当诊断和分子监测的标准。

NPM1-mutated acute myeloid leukemia (AML) represents the largest molecular subgroup of adult AML. NPM1-mutated AML is recognizable by molecular techniques and immunohistochemistry which, when combined, can solve difficult diagnostic problems (including identification of myeloid sarcoma and NPM1 mutations outside exon 12). According to the 2022 European LeukemiaNet (ELN), determining the mutational status of NPM1 (and FLT3) is a mandatory step for the genetic-based risk stratification of AML. Monitoring of MRD by RT-qPCR, combined with ELN risk-stratification, can guide therapeutic decisions at post-remission stage. Here, we review the criteria for appropriate diagnosis and molecular monitoring of NPM1-mutated AML.