NPM1基因突变在急性髓系白血病中的作用

Effect of NPM1 gene mutations in acute myeloid leukemia

目的探讨急性髓系白血病(acute myeloid leukemia,AML)患者中NPM1基因突变发生情况,并了解其临床特征及预后。方法采用基因组DNA-PCR方法扩增39例初发AML患者骨髓单个核细胞NPM1基因,直接测序法检测AML患者NPM1基因第12外显子的突变情况。结果 (1)39例初发AML患者中NPM1突变7例(17.9%),其中A型突变6例,B型突变1例。(2)NPM1突变在22例染色体正常核型AML中的发生率27.3%(6/22),显著高于异常核型7.7%(1/13)(P<0.01)。(3)临床数据显示NPM1基因突变患者外周血白细胞计数高于野生型患者,NPM1基因突变患者具有较高的临床完全缓解率(CR)。结论 NPM1基因突变是AML尤其是正常核型AML患者常见的分子学异常,单纯NPM1基因突变患者外周血白细胞数比例较高,预后较好。

Objective To investigate the frequency of nucleophosmin （ NPM1 ） gene mutations in acute myeloid leukemia （AML） and its correlation with clinical features and prognosis. Methods Thirty -nine de novo AML patients were involved in this study. PCR combined with direct sequencing was used to detect NPMI exon - 12 mutations. Results （ 1 ） In the thirty - nine newly diagnosed AML patients, NPM1 mutation positive was detected in seven patients （ 17.9% ） , including six patients with A - type mutation and one patient with B - type mutation. （2） NPM1 mutations were identified as 27.3 % （6/22） in twenty - two AML patients with normal karyotype, significantly higher than that in patients with abnormal karyotype. （ 3 ） White blood cell （WBC） count was higher in NPM1 mutative type patients than in NPM1 wild type patients. NPM1 mutations had a much better complete remission. Conclusions NPM1 gene mutations are common in AML patients, especially in AML with normal karyotype. NPM1 mutations are signicantly associated with high WBC count and a high CR ratio.