核仁磷酸蛋白1（NPM1）突变与核型正常的骨髓增生异常综合征及急性髓系白血病

NPM1 mutations in myelodysplastic syndromes and acute myeloid leukemia with normal karyotype.

作者信息

Zhang Yue, Zhang Meirong, Yang Lin, Xiao Zhijian

机构信息

State Key Laboratory of Experiment Hematology, Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 288 Nanjing Road, Tianjin 300020, PR China.

出版信息

Leuk Res. 2007 Jan;31(1):109-11. doi: 10.1016/j.leukres.2006.03.013. Epub 2006 May 5.

DOI:10.1016/j.leukres.2006.03.013

PMID:16678898

Abstract

Mutations at exon 12 of the nucleophosmin (NPM1) gene are the most frequent acquired molecular abnormalities in adult and pediatric acute myeloid leukaemia (AML) with normal karyotype. We screened 28 patients with new diagnosed primary AML with normal karyotype, 38 patients with myelodysplastic symdromes (MDS) and 19 healthy volunteer for mutations at exon 12 of NPM1 gene. NPM1 mutations were identified in four AML patients and two MDS patients, including one novel sequence variant. As far as we know, this is the first report of NPM1 mutation in patients with MDS in the English literature until now, and our primary data support that NPM1 mutations may be also involved in the pathogenesis of MDS.

摘要

核仁磷酸蛋白（NPM1）基因第12外显子的突变是成人和儿童核型正常的急性髓系白血病（AML）中最常见的获得性分子异常。我们对28例新诊断的核型正常的原发性AML患者、38例骨髓增生异常综合征（MDS）患者和19名健康志愿者进行了NPM1基因第12外显子突变的筛查。在4例AML患者和2例MDS患者中鉴定出NPM1突变，包括1个新的序列变异。据我们所知，这是迄今为止英文文献中关于MDS患者NPM1突变的首次报道，我们的初步数据支持NPM1突变可能也参与了MDS的发病机制。