骨髓增生异常综合征患者FLT3基因及FLT3/ITD基因突变的检测及价值

The value detection of FLT3 gene and FLT3/ITD mutation in myelodysplastic syndromes

目的 研究骨髓增生异常综合征 (MDS)患者DNA水平FLT3基因及FLT3 /ITD基因突变情况。方法 采用聚合酶链反应 (PCR)联合单链构象多态性 (SSCP)分析 3 6例MDS患者FLT3基因及FLT3 /ITD基因突变。结果 3 6例MDS患者中 9例 ( 2 5 %)FLT3基因检测阳性 ,难治性贫血伴原始细胞增多 (RAEB)、慢性粒单细胞白血病和转变中的RAEB(RAEBT)组FLT3基因检测阳性率显著高于难治性贫血 (RA)和环形铁粒幼细胞性难治性贫血 (RAS)组 (P <0 0 2 5 )。FLT3基因检测阳性MDS转化为急性髓性白血病 (AML)时间显著短于FLT3检测阴性患者 (P <0 0 5 )。 3 6例MDS患者中有 2例 ( 5 6%)出现FLT3 /ITD基因突变 ,RAEB及RAEBT各 1例。结论 部分MDS患者可检测出FLT3基因表达和FLT3基因突变 ,FLT3基因及FLT3

Objective To analyse the FLT3 gene and FLT3/ITD mutation in myelodysplastic syndromes (MDS) patients. Methods Polymerase chain reaction (PCR) and single-strand conformation polymophism (SSCP) was used to detect the FLT3/ITD mutation in 36 cases of MDS. Results FLT3 gene was detected in 9 cases (25 0%). The positive detection rate of FLT3 gene was higher in RAEB/CMML/RAEBT subtypes than that in RA/RAS subtypes ( P <0 025). The average time of MDS evoluing to acute myeloid leukemia (AML) was shorter in MDS patients positive with FLT3 gene than that in the MDS patients without FLT3 gene detected ( P <0 05). Two cases(5 6%) were found to have FLT3 /ITD mutation, one was RAEB and the other was RAEBT. Conclusion FLT3 gene and FLT3/ITD mutation can be detected in some MDS patients and the detection of FLT3 gene and FLT3/ITD mutation may be helpful to predict the prognosis and the development of MDS.