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采用聚合酶链反应-单链构象多态性技术检测急性淋巴细胞白血病患者的FLT3基因及FLT3/ITD突变

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

作者信息

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

机构信息

Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China.

出版信息

Di Yi Jun Yi Da Xue Xue Bao. 2005 Oct;25(10):1207-10.

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.

摘要

目的

分析不同免疫亚型急性淋巴细胞白血病(ALL)患者的Fms样酪氨酸激酶3(FLT3)基因及FLT3内部串联重复(ITD)突变情况。

方法

采用聚合酶链反应-单链构象多态性(PCR-SSCP)法检测63例ALL患者的FLT3基因及FLT3/ITD突变。

结果

63例ALL患者中,41例(61.5%)检测到FLT3基因。前前B系ALL、前B-ALL、B系ALL和T系ALL患者中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)。前前B-ALL/前B-ALL亚型中FLT3基因阳性率(84.8%)显著高于B-ALL亚型(41.7%,P<0.005),B-ALL亚型中该率(73.3%)显著高于T-ALL亚型(28.6%,P<0.001)。发现2例(3.2%)有FLT3/ITD突变,髓系抗原表达也呈阳性,诊断为急性混合系白血病,表现为白细胞增多及骨髓原始细胞比例高,预后差。

结论

B系和T系ALL患者均可检测到FLT3基因,但在前者中更常见。在B系ALL患者中,未分化原始细胞病例的FLT3基因比分化原始细胞病例更常见。ALL患者中很少检测到FLT3/ITD,检测FLT3/ITD突变可能有助于识别急性白血病的基因型并评估预后。

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