初诊急性髓系白血病患者FLT3-ITD和NPM1基因联合突变与临床特征的关系  

Correlation of FLT3/ITD and NPM1 mutations with clinical characteristics in patients with acute myeloid leukemia

作　　者：陈岳华[1] 陶师[1] 朱卫国[1] 王云贵[2] 钱文斌[2] 

机构地区：[1]绍兴第二医院血液科,312000 [2]浙江大学医学院附属第一医院血液科

出　　处：《浙江医学》2013年第12期1136-1137,1167,共3页Zhejiang Medical Journal

摘　　要：目的探讨初发急性髓系白血病（AML）患者中FMS样酪氨酸激酶3-基因内部串联重复（FLT3-ITD）和核仁磷酸蛋白1（NPM1）基因突变的发生频率，并进一步分析其与患者临床特征的关系。方法收集44例临床初诊为AML的成人患者骨髓标本，通过基因组DNA—PCR技术对FLT3-ITD和NPM1基因突变进行检测。结果44例患者共检测到FLT3-ITD突变10例，检出率227％。FLT3-ITD突变阳性的10例患者和无突变者初诊WBC中位数分别为（98．5±22．5）X109／L和（42．9±12．4）×10^9TL，两者相比具有统计学差异（P〈0．05）。44例患者共检测到NPM1突变14例，检出率31．8％。大部分突变患者，染色体核型正常。结论FLT3-ITD和NPM1基因突变是AML患者中常见的分子生物学异常，对患者的临床和预后有影响。Objective To investigate the frequency of Fms-like tyrosine kinase 3 tandem duplication （FLT3-1TD） and nu- cleophosmin 1 （NPM1） gene mutations in patients with incipient acute myeloid leukemia （AML）, and its relationship with clinical features of patients. Methods Bone marrow samples were collected from 44 AML cases, the FLT3-1TD and NPM1 gene muta- tions were examined by genomic DNA PCR, and the relationship between gene mutations and clinical features was analyzed. Results FLT3-1TD gene mutations were detected in 10 cases with a detection rate of 22.7%. The median WBC count in AML pa- tients with FLT3-1TD mutation was （98.5 ± 22.5） x 109/L, and that in those with no FLT3-1TD mutation was （42.9± 12.4） x 109/LIP〈 0.05）. NPM1 gene mutations were detected in 14 cases with a detection rate of 31.8%. Most patients with mutations had normal karyotype. Conclusion FLT3-1TD and NPM1 gene mutations are frequent abnormalities in acute myeloid leukemia, which may affect the prognosis of patients.

关 键 词：白血病 FLT3-ITD NPM1基因突变 

分 类 号：R733.71[医药卫生—肿瘤]