Institute of Hematology, University of Perugia, Perugia, Italy.
Curr Opin Oncol. 2009 Nov;21(6):573-81. doi: 10.1097/CCO.0b013e3283313dfa.
Nucleophosmin (NPM1) gene mutations, which cause aberrant cytoplasmic expression of nucleophosmin (NPMc+), are the most frequent genetic alteration in acute myeloid leukemia (AML), being found in about 30% cases. The present review summarizes recent advances in the biology, diagnosis, prognosis and therapy of NPM1-mutated AML.
Diagnostic criteria of NPM1-mutated AML are discussed in the light of its recent inclusion in the 2008 WHO classification of myeloid neoplasms. We also outline the most recent findings on prognosis and monitoring of minimal residual disease in NPM1-mutated AML and their implications for therapeutic decisions. Moreover, new insights are presented into the molecular mechanisms underlying perturbed nucleophosmin traffic in NPM1-mutated AML, which provides the rationale for the development of targeted therapies.
AML with mutated NPM1 is a leukemia entity with distinct molecular, pathological, and prognostic features.
核仁磷酸蛋白（Nucleophosmin，NPM）基因的突变导致核仁磷酸蛋白（Nucleophosmin，NPM）的异常细胞质表达（NPMc+），是急性髓系白血病（AML）中最常见的遗传改变，约占 30%病例。本综述总结了 NPM1 突变型 AML 的生物学、诊断、预后和治疗方面的最新进展。
根据 2008 年世界卫生组织（WHO）髓系肿瘤分类，讨论了 NPM1 突变型 AML 的诊断标准。我们还概述了 NPM1 突变型 AML 中最小残留病（minimal residual disease，MRD）的预后和监测的最新发现及其对治疗决策的影响。此外，还提出了 NPM1 突变型 AML 中核仁磷酸蛋白运输紊乱的分子机制的新见解，为靶向治疗的发展提供了依据。
NPM1 突变的 AML 是一种具有独特的分子、病理和预后特征的白血病实体。
