【摘要】 目的:研究急性淋巴细胞白血病(ALL)患者FLT3基因及其内部串联重复(ITD)突变情况。方法:采用多聚酶链反应(PCR)联合单链构象多态性(SSCP)方法检测76例不同免疫分型ALL患者FLT3基因及FLT3/ITD基因突变。结果:76例ALL患者经PCR扩增发现46例(60.5%)FLT3基因检测阳性,其中前前B细胞ALL、前B细胞ALL、成熟B细胞ALL及T细胞系ALL患者FLT3基因检测阳性率分别为88.2%(15/17),73.9%(17/23),40.0%(6/15)和23.5%(4/17);前前B细胞ALL和前B细胞患者ALL FLT3基因检测阳性率80.0%,显著高于成熟B细胞ALL(40.0%)(P<0.01);B细胞系ALL患者FLT3基因检测阳性率为69.1%,显著高于T细胞系ALL患者(23.5%)(P<0.01)。76例ALL患者中仅有2例(2.6%)出现FLT3/ITD基因突变,此2例均为伴有2种髓系抗原表达,免疫学检查诊断为急性混合细胞白血病患者,均伴有外周血高白细胞数、骨髓中高白血病细胞比例及预后较差。结论:B细胞系ALL和T细胞系ALL患者均可检测出FLT3基因,但B细胞系ALL患者FLT3基因检测阳性率显著高于T细胞系ALL;B细胞系ALL中细胞分化越成熟则FLT3基因检测率阳性越低。ALL患者一般不出现FLT3/ITD基因突变,FLT3/ITD基因突变检测可能有助于急性白血病基因分型及预后判断。更多还原

【Abstract】 Objective:To analyse the FLT3 gene and FLT3/ITD mutation in different immunological subtypes of acute lymphoblastic leukemia(ALL)patients at the DNA level.Method:Polymerase chain reaction(PCR) and single-strand conformation polymophism(SSCP) were used to detect the FLT3 gene and FLT3/ITD mutation in 76 cases of ALL.Result:Among 76 ALL patients,FLT3 gene could be detected in 46((60.5)%) cases at the DNA level.The detected positive rates of FLT3 gene in pre-pre B-ALL,pre B-ALL,B-ALL and T-ALL were(88.2)%(15/17),(73.9)%(17/23),(40.0)%(6/15) and(23.5)%(4/17),respectively.The detected positive rates of FLT3 gene were significantly higher in pre-pre B-ALL and pre B-ALL subtypes((80.0)%) than that in B-ALL subtype((40.0)%)(P<(0.01)).The detected positive rate of FLT3 gene was significantly higher in B-lineage ALL subtype((69.1)%) than that in T-lineage ALL subtypes((23.5)%)(P<(0.01)).2 cases((2.6)%) were found to have FLT3/ITD mutation,both were ALL with myeloid antigen expressed and were considered as acute mixed-lineage leukemia.Both of the two cases with FLT3/ITD mutation had leukocytosis,a high percentage of bone marrow blast cells and poor prognosis.Conclusion:FLT3 gene can be detcted in both B-lineage ALL and T-lineage ALL patients at the DNA level,but it was detected more frequently in B-lineage ALL.In B-lineage ALL,the more differentiated blast cells are,the less positively detected rate of FLI 3 gene is.FLT3/ITD is rarely detected in ALL patients and the detection of FLT3/ITD mutation might be helpful to identify the genic characterization and the prognosis of acute leukemia.更多还原