南方医科大学学报

南方医科大学学报 ›› 2005, Vol. 25 ›› Issue (10): 1207-1210.

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PCR-SSCP分析急性淋巴细胞白血病患者FLT3基因及FLT3/ITD基因突变及意义

徐兵, 李琳, 唐家宏, 周淑芸   

  1. 南方医科大学南方医院血液科, 广东, 广州, 510515
  • 出版日期:2005-10-20 发布日期:2005-10-20
  • 基金资助:
    收稿日期:2005-4-12。
    基金项目:Science and Technology Development Program of Guangdong Province(2002C30304;2004B30701005)
    作者简介:XU Bing(1966- ),Associate Professor and Associate Chief Physician,specialized in the research of leukemia,Tel:020-61641615,E-mail:xbzj@fimmu.com

Detection of FLT3 gene and FLT3/ITD mutation by polymerase chain reaction-single-strand conformation polymorphismin in patients with acute lymphoblastic leukemia

XU Bing, LI Lin, TANG Jia-hong, ZHOU Shu-yun   

  1. 南方医科大学南方医院血液科, 广东, 广州, 510515
  • Online:2005-10-20 Published:2005-10-20

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摘要： 目的 研究急性淋巴细胞白血病(ALL)患者DNA水平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63例不同免疫分型ALL患者DNA水平FLT3基因及FLT3/ITD基因突变。结果 63例ALL患者经PCR扩增发现41例(65.1%)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93.3%(14/15),77.8%(14/18),41.7%(5/12)和28.6%(4/14);前前B细胞ALL和前B细胞患者ALLFLT3基因检测阳性率84.8%,显著高于成熟B细胞ALL(41.7%,P<0.005);B细胞系ALL患者FLT3基因检测阳性率为73.3%,显著高于T细胞系ALL患者(28.6%,P<0.001)。63例ALL患者中仅有2例(3.2%)出现FLT3/ITD基因突变,均为伴有两种髓系抗原表达、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,预后较差。结论 B细胞系ALL和T细胞系ALL患者DNA水平均可检测出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。

Abstract: Objective To analyze Fms-like tyrosine kinase 3 (FLT3) gene and FLT3 internal tandem duplication (ITD) mutation in acute lymphoblastic leukemia (ALL) patients of different immunological subtypes. Methods Polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) was used to detect FLT3 gene and FLT3/ITD mutation in 63 ALL cases. Results Among the 63 ALL cases, FLT3 gene was detected in 41 (61.5%) cases. The positivity rate of FLT3 gene in pre-pre B-lineage ALL, pre-B-ALL, B-lineage ALL and T-lineage ALL cases were 93.3% (14/15), 77.8% (14/18), 41.7% (5/12) and 28.6% (4/14), respectively. The positivity rate of FLT3 gene was significantly higher in pre-pre B-ALL/pre B-ALL subtypes (84.8%) than in B-ALL subtypes (41.7%, P<0.005), and the rate was significantly higher in B- ALL subtypes (73.3%) than in T-ALL subtypes (28.6%, P<0.001). Two cases (3.2%) were found to have FLT3/ITD mutation, which were also positive for myeloid antigen expression and diagnosed as acute mixed-lineage leukemia, showing leukocytosis and high percentage of bone marrow blast cells with poor prognosis. Conclusions FLT3 gene can be detected in both B- and T-lineage ALL patients, but more frequently in the former. In B-lineage ALL patients, FLT3 gene is more frequent in cases with undifferentiated than those with differentiated blast cells. FLT3/ITD is rarely detected in ALL patients and FLT3/ITD mutation detection might be helpful to identify the genotypes and evaluate the prognosis of acute leukemia.

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