急性髓系白血病NPM1基因突变研究  

Research on NPM1 Gene Mutations in Acute Myeloid Leukemia

作　　者：陈华英[1] 鹿全意[1] 

机构地区：[1]厦门大学附属中山医院血液内科,福建厦门361004

出　　处：《中国实验血液学杂志》2013年第1期258-262,共5页Journal of Experimental Hematology

摘　　要：核仁磷酸蛋白(NPM1)又称B23、N038,是位于核仁颗粒区的一种在各种类型的细胞中广泛表达的多功能蛋白质。目前的多项研究发现,NPM1突变在急性髓系白血病(AML)中,尤其是在正常核型AML(nk-AML)中检出率最高的一种分子遗传学异常。NPM1突变是AML一类特殊的亚群,具有相对独特的临床特点,且是AML独立的预后良好的指标。NPM1突变的研究对AML患者诊断、治疗及预后判断具有重要的临床意义。本文综述近年来AML中NPM1基因突变的发现,包括NPM1基因结构与生理功能,AML中NPM1基因突变及NPM1基因突变检测方法等问题。Nucleolar phosphoprotein （ nucleophosmin 1, NPM1 ）, also known as B23, N038, is located in the nucleolar particles of a multifunctional protein widely expressed in various types of cells. At present, a number of studies found that the NPM1 gene mutation is the most frequent acquired molecular genetic abnormalities in acute myeloid leukemia （AML）, especially in normal karyotype AML （nk-AML）. NPM1 mutation is a special subgroup in AML, which has relatively unique clinical features, and is the independent prognostic indicators of AML. Research on NPM1 mutation has an important clinical significance in the diagnosis, treatment and prognosis judgment of AML patients. This article reviews the discovery of NPM1 gene mutation in AML in recent years, including structure and physiological functions of NPM1 gene, NPM1 gene mutation in AML, detection methods of NPM1 gene mutation, and so on.

关 键 词：急性髓系白血病 NPM1 基因突变 

分 类 号：R733.71[医药卫生—肿瘤]