正常核型成人AML患者NPM1基因突变及临床特征分析  

NPM1 mutations in 85 adult acute myeloid leukemia patients with normal karyotypes and their clinical features

作　　者：周薇[1,2] 王汉平[1,2] 应逸[1] 谢健晋[1] 陈晓燕[1] 

机构地区：[1]广州市第一人民医院血液科,广东广州510180 [2]广东省临床分子医学及分子诊断重点实验室,广东广州510180

出　　处：《中国热带医学》2012年第8期919-921,共3页China Tropical Medicine

摘　　要：目的探讨正常核型成人急性髓细胞白血病(AML)患者核仁磷酸蛋白1(NPM1)基因突变情况,并分析NPM1突变阳性AML患者的临床特征。方法采用高分辨熔解曲线(HRM)法检测正常核型成人AML患者NPM1基因突变,结合临床资料分析NPM1突变阳性的临床特征。结果 85例正常核型成人AML中有19例出现NPM1突变,阳性率为22.4%,NPM1突变型患者分别为M2 4例,M4 5例,M5 9例,M6 1例。NPM1突变组女性占52.6%(10/19),NPM1野生型组女性占31.8%(21/66),两组有统计学差异(P<0.05);NPM1突变组患者外周血白细胞(WBC)为(66.6±59.1)×109/L,血小板(PLT)为(146.4±155.8)×109/L,而NPM1野生型组患者外周血WBC为(44.1±40.1)×109/L,PLT为(71.8±46.1)×109/L,两组间WBC有统计学差异(t=0.04,P<0.05),PLT差异无统计学意义;NPM1突变组患者高表达CD33、CD13、CD117,低表达CD34。结论 NPM1突变阳性的正常核型的成人AML在临床、病理以及免疫表型方面具有独特的特质,值得深入研究。Objective To investigate the clinical features of NPM1 mutation in acute myeloid leukemia（AML） patients with normal karyotypes. Methods NPM1 mutations in 85 adult AML patients with normal karyotypes were detected by HRM technology. Results NPM1 positive mutations were detectd in nineteen of eighty five patients （22.4%）,including four AML-M2, five AML-M4, nine AML-M5, and one AML-M6. The proportion of female occupied 52.6% of NPM1 mutant patients and NPM1 wild-type patients occupied 31.8% ,showing significant difference （P〈0.05）,WBC counts in NPM1 positive mutations was（66.6 _＋ 59.1 ） x 109/L and PLT was （ 146.4 -＋ 155.8） x 109/L,while that of the NPM1 wild-type patients was （44.1 -＋ 40.1） x 109/L, t=0.04,P 〈 0.05）and .（71.8 ＋ 46.1 ） x 109/L,without significant difference （P〉0.05）. CD33, CD13,CDll7 were highly and CD34 was lowly expressed in NPM1 mutant patients（P〈 0.05）. Conclusion NPMc＋AML account for nearly one-third of AMLs with nomal karyotypes and have distinct genetic, pathologic, immunophenotypic, and clinical characteristics, and that further studies are needed to figure it out.

关 键 词：急性髓细胞白血病 正常核型 基因突变 NPM1 

分 类 号：R733.71[医药卫生—肿瘤]