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.
出处
《浙江医学》
CAS
2013年第12期1136-1137,1167,共3页
Zhejiang Medical Journal