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

Bing Xu, Lin Li, Jia-hong Tang, Shu-yun Zhou
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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.

聚合酶链反应-单链构象多态性检测急性淋巴细胞白血病患者FLT3基因及FLT3/ITD突变。
目的:分析不同免疫亚型急性淋巴细胞白血病(ALL)患者fms样酪氨酸激酶3 (FLT3)基因及FLT3内串联重复(ITD)突变。方法:采用聚合酶链反应-单链构象多态性(PCR-SSCP)检测63例ALL患者FLT3基因及FLT3/ITD突变。结果:63例ALL中,FLT3基因检出41例(61.5%)。前b系ALL、前b系ALL、b系ALL和t系ALL中FLT3基因阳性率分别为93.3%(14/15)、77.8%(14/18)、41.7%(5/12)和28.6%(4/14)。FLT3基因在pre-pre - B-ALL/pre - B-ALL亚型中的阳性率(84.8%)明显高于B-ALL亚型的阳性率(41.7%)。结论:FLT3基因在b系和t系ALL患者中均可检测到,但前者更常见。在b系ALL患者中,FLT3基因在未分化的患者中比在已分化的患者中更常见。FLT3/ITD在ALL患者中很少检测到,FLT3/ITD突变检测可能有助于急性白血病的基因型鉴定和预后评估。
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