NPM1和FLT3基因突变与急性髓系白血病临床特征及预后相关性研究

发布时间：2018-01-15 14:27

本文关键词：NPM1和FLT3基因突变与急性髓系白血病临床特征及预后相关性研究　出处：《宁夏医学杂志》2016年12期 　论文类型：期刊论文

【摘要】：目的探讨核仁磷酸蛋白(NPMl)基因突变及FMS样酪氨酸激酶3(FLT3)基因内部串联重复(ITD)突变与成人急性髓系白血病(AML)患者临床特征及预后的相关性。方法应用PCR结合DNA测序技术分析NPM1与FLT3-ITD突变在135例初诊成人急性白血病(AL)患者骨髓单个核细胞中的表达,研究NPM1与FLT3-ITD突变阳性AML患者的临床特征及疗效。结果 115例AML患者NPM1突变阳性率29.6%(34/115),FLT3-ITD突变阳性率19.1%(22/115),NPM1及FLT3-ITD突变同时存在共7例;20例急性淋巴细胞白血病(ALL)和10例正常对照中均未检测到NPM1或FLT3-ITD突变。NPM1+AML患者初诊时BPC较高(P0.05)、伴有特异性融合基因患者比例低(P0.05)、免疫表型CD34阳性患者比例低(P0.05)。单纯NPM1突变阳性AML患者有预后较好相关趋势。FLT3-ITD+AML患者初诊时骨髓原始细胞比例高(P0.05),化疗后有低缓解率趋势。两种突变均与初诊时中位WBC数及染色体正常核型患者比例有相关关系(P0.05)。结论 NPM1和FLT3-ITD突变是正常核型AML患者常见的分子学异常,且与AML临床特征及预后有一定相关性。
[Abstract]:Objective to investigate the relationship between nucleolar phosphatase (NPM) gene mutation and FMS like tyrosine kinase 3 (FLT3) gene internal tandem repeat (FMS) mutation and adult acute myeloid leukemia (AMLL). Methods PCR combined with DNA sequencing technique was used to analyze NPM1 and FLT3-ITD mutation in 135 newly diagnosed adults with acute leukemia. Expression of bone marrow mononuclear cells in patients. To study the clinical characteristics and efficacy of NPM1 and FLT3-ITD mutation positive AML patients. Results the positive rate of NPM1 mutation in 115 AML patients was 29.6% (34 / 115). The positive rate of FLT3-ITD mutation was 19.1% / 115% NPM1 and FLT3-ITD mutation in 7 cases. In 20 patients with acute lymphoblastic leukemia (ALL) and 10 normal controls, no NPM1 or FLT3-ITD mutation. NPM1 AML was detected. P0.05). The proportion of patients with specific fusion gene was low (P0.05). The proportion of patients with immunophenotypic CD34 positive was low (P0.05). There was a good prognostic trend in patients with simple NPM1 mutation positive AML. The proportion of bone marrow progenitor cells in patients with FLT3-ITD AML was higher than that in patients with FLT3-ITD AML at first visit (P0.05). There was a tendency of low remission rate after chemotherapy. There was a correlation between the two mutations and the number of median WBC at first diagnosis and the proportion of patients with normal karyotype of chromosome (P0.05). Conclusion NPM1 and FLT3-ITD mutations are common molecular abnormalities in normal AML patients. And there is a certain correlation with the clinical characteristics and prognosis of AML.
【作者单位】：宁夏医科大学总医院血液内科;宁夏医科大学总医院基因芯片中心;
【分类号】：R733.71
【正文快照】： 在急性髓系白血病(AML)患者的发病中,通常会出现染色体异常和基因突变。核仁磷酸蛋白(NPM1)基因突变是白血病发生的主要分子事件之一,累及AML的多种亚型,尤其是在正常核型AML(NC-AML)细胞中[1]。酶氨酸激酶3(FLT3)与白血病的发生和发展有着密切的关系[2],研究显示FLT3-ITD突变

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