急性淋巴细胞白血病患者FLT3基因及FLT3/ITD基因突变的检测及临床意义  

The detection of FLT3 gene and FLT3/ITD mutation in acute lymphoblastic leukemia patients and it's significance

作　　者：徐兵[1] 李冰[1] 唐家宏[1] 

机构地区：[1]南方医科大学南方医院血液科,广州510515

出　　处：《临床血液学杂志》2006年第2期67-69,72,共4页Journal of Clinical Hematology

基　　金：广东省科技计划项目(No.2002C30304)

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。Objective：To analyse the FLT3 gene and FLT3/ITD mutation in different immunological subtypes of acute lymphoblastie 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 lev el. The detected positive rates of FLT3 gene in pre-prc B-ALL, pre BALL, 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 BALL and pre BALI. subtypes （80.0%） than that in BALL 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 leuke mia. 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.

关 键 词：白血病 淋巴细胞 急性 FLT3 基因 FLT3/ITD基因突变 多聚酶链反应(PCR) 

分 类 号：R733.71[医药卫生—肿瘤]