Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Institute of Medical Science, University of Toronto, Ontario, Canada.
Leukemia. 2017 Apr;31(4):798-807. doi: 10.1038/leu.2017.30. Epub 2017 Jan 23.
Acute myeloid leukemia (AML) is characterized by accumulation of myeloid cells in the bone marrow because of impaired differentiation and proliferation, resulting in hematopoietic insufficiency. NPM1 is one of the most commonly mutated genes in AML, present in 20-30% of cases. Mutations in NPM1 represent a distinct entity in the World Health Organization (WHO) classification and commonly indicate a better risk prognosis. In this review, we discuss the many functions of NPM1, the consequence of mutations in NPM1 and possible mechanisms through which mutations lead to leukemogenesis. We also discuss clinical consequences of mutations, associated gene expression patterns and the role of NPM1 mutations in informing prognosis and therapeutic decisions and predicting relapse in AML.
急性髓系白血病（AML）的特征是由于分化和增殖受损，骨髓中髓系细胞堆积，导致造血功能不足。NPM1 是 AML 中最常见突变的基因之一，存在于 20-30%的病例中。NPM1 突变代表世界卫生组织（WHO）分类中的一个独特实体，通常预示着更好的风险预后。在这篇综述中，我们讨论了 NPM1 的许多功能、NPM1 突变的后果以及突变导致白血病发生的可能机制。我们还讨论了突变的临床后果、相关基因表达模式以及 NPM1 突变在提供预后和治疗决策信息以及预测 AML 复发方面的作用。
