目的 分析老年急性髓细胞白血病(AML)Fms样酪氨酸激酶3内部串联重复序列(FLT3-ITD)基因突变及其临床意义.方法 采用聚合酶链反应-变性高效液相色谱技术(PCR-DHPLC)分析30例初发老年AML患者骨髓单个核细胞FLT3-ITD突变.结果 30例老年AML患者FLT3-ITD突变阳性率26.67%(8/30),对照组均未检测到该突变;FAB各亚型FLT3-ITD突变率不同,有M3型突变率较高的趋势;所检测到FLT3-ITD突变均为杂合突变,突变均在阅读框内;不同预后核型组FLT3-ITD突变阳性率不同,预后中等核型组突变率较高,达40.0%(6/15);显示FLT3-ITD突变阳性者具有高白细胞、白血病细胞、完全缓解(CR)率低等临床特点.结论 FLT3-ITD突变阳性老年AML患者预后差,且多发生于预后中等核型组;FLT3-ITD突变检测在一定程度上可以弥补细胞遗传学的不足,有可能成为老年AML患者常规检测项目,以指导治疗判断预后.%Objective The aim of the study was to detect the mutation of Fms-like tyrosine kinase 3 internal tandem duplication (FLT3-1TD) rate in older de novo acute myeloid leukemia (AML) patients, to evaluate the role of FLT3-ITD in AML and its clinical significance. Methods The mutations of FLT3-1TD in bone marrow mononuelear cells (MNCS) from 30 cases of older AML were screened by polymerase chain reaction denaturing-high performance liquid chromatography (PCR-DHPLC). Results FLT3-1TD mutations were identified in 26.67 %(8/30) patients, while there were no mutations identified in control cases. And these kinds of mutations were likely to attend in M3 types. All mutations of FLT3-ITD were heterozygous and rearrangement fragment located in reading frame. Different karyomite groups had different FLT3-ITDmutations rate. We could see that FLT3-ITD positive patients were more prevalent in patients with normal karyotype. Clinical researches indicated that FLT3-ITD mutations had the characteristics of a higher peripheral white cell count, higher blast cells and lower complete remission rate in older AMKA Conclusion FLT3-ITD positive older AML patients conferred a poor prognosis and were likely to attend in normal karyomite group. The detection of FLT3-ITD mutations could make up for the deficiency of cytogenetics to some extent, and may become a routine examination of AML in older, which can direct their treatment and predict their prognosis.
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