核仁磷酸蛋白突变与血液肿瘤

Nucleophosmin Mutations in Hematological Malignancies——Review

核仁磷酸蛋白(NPM)是一类穿梭于核仁、核质和胞质的蛋白质。最近在核型正常的急性髓系白血病和少数骨髓增生异常综合征中发现有NPM基因突变及其蛋白的胞浆移位,突变的NPM可能通过下调肿瘤抑制因子Arf启动p53活性和诱导细胞周期停止而促进细胞恶性增殖。临床研究提示,NPM突变与急性髓系白血病患者的预后相关,并且可作为微量残留白血病的监测指标。这些发现提示NPM突变可能在髓系白血病的发生中具有重要作用。本文就NPM突变在血液肿瘤中的研究进展做一综述。

Nucleophosmin （NPM） is a protein that shuttles between the nucleus, nucleoplasm and cytoplasm, NPM gene mutations and aberrant cytoplasmic NPM localization have been recently described in acute myelogenous leukemia （AML） with normal karyotype and in a few myelodysplastic syndromes, Expression of NPM mutant reduces the ability of Arf to initiate a p53 response and to induce cell cycle arrest, Clinical research has revealed that NPM mutations are relative to prognosis and can be used to monitor and quantify minimal residual disease （MRD） in AML patients with normal karyotype, therefore, these findings indicate that nucleophosmin mutations might contribute to illustration of myeloid leukemogenesis, In this paper, the research progress of nucleophosmin mutations in haematological malignancies was reviewed.