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NPM1基因突变与急性髓细胞白血病
引用本文:韦怡怡,罗军,卢玉英.NPM1基因突变与急性髓细胞白血病[J].国际病理科学与临床杂志,2008,28(6):7-495.
作者姓名:韦怡怡  罗军  卢玉英
作者单位:广西医科大学第一附属医院血液内科,南宁,530021
摘    要:NPM1(nucleophosmin,又称B23, numatrin或N038)是一种主要定位于核仁,可在核仁与胞浆之间穿梭的核磷蛋白。第12外显子突变导致NPM1胞浆异位从而发生肿瘤转化。NPM1突变与正常核型的急性髓细胞白血病、成年女性、多系受累、CD34-、 FLT3-ITD、独特的临床表现及良好的预后有关。对于NPM1+/FLT3-ITD-患者,移植与否对预后无差别。NPM1突变导致白血病发生的机制尚不清楚。

关 键 词:核磷蛋白  急性髓细胞白血病  基因突变
收稿时间:2008-7-31
修稿时间:2008-9-20

NPM1 gene mutation and acute myeloid leukemia
WEI Yi-yi,LUO Jun,LU Yu-ying.NPM1 gene mutation and acute myeloid leukemia[J].Journal of International Pathology and Clinical Medicine,2008,28(6):7-495.
Authors:WEI Yi-yi  LUO Jun  LU Yu-ying
Institution:Department of Hematology, First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China
Abstract:NPM1(nucleophosmin,also named as B23,numatrin or N038) is a nucleophosmin that is localized mainly in the nucleolus,continuously shuttles between the nucleus and cytoplasm.Mutations in exon 12 cause cytoplasmic NPM1 localization,and consequently contribute to tumour development.NPM1 mutations correlate with normal karyotype acute myeloid leukemia,adult female,multilineage involvement,CD34 negativity,FLT3-ITD,special clinical feature and better prognosis.For the patients with NPM1-mutated/FLT3 ITD-negative,there is no different prognosis between allogeneic SCT and non-allogeneic SCT.Now how mutated NPM1 contributes to leukemogenesis still remains to be explored.
Keywords:NPM1(nucleophosmin)  acute myeloid leukemia(AML)  gene mutation
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