WT1基因在骨髓增生异常综合征中的表达及其与疾病进展的关系

Wilms' tumor1 gene expression in myelodysplastic syndrome and its changes in the process of myelodys-plastic syndrome transforming into acute leukemia

目的 :观察 WT1基因在骨髓增生异常综合征 (MDS)不同亚型中的表达程度 ,探讨 WT1基因在MDS进展为急性白血病 (AL)进程中的表达规律。方法 :应用逆转录聚合酶链反应 (RT PCR)对 49例不同类型的 MDS患者外周血 WT1基因 (4种剪接变体 )表达情况进行测定。同时检测 66例 AL 患者〔其中包括由MDS转变而来的急性白血病 (post MDS AL)患者 8例〕及 16例健康对照者 WT1基因的表达。结果 :49例MDS患者 WT1阳性表达率为 2 2 .4% (11/4 9) ;难治性贫血 (RA) 13例 ,WT1阳性率为 0 (0 /13 ) ;原始细胞增多性难治性贫血 (RAEB) 2 4例 ,WT1阳性率为 2 5 .0 % (6/2 4) ;转化型原始细胞增多性难治性贫血 (RAEB t)12例 ,WT1阳性率为 41.7% (5 /12 )。 RA与 RAEB和 RAEB t比较差异有显著及非常显著性 (P<0 .0 5和P<0 .0 1)。 AL患者 66例 ,WT1阳性率为 48.5 % (3 2 /66) ,与 MDS组比较差异有非常显著性 (P<0 .0 1)。 postMDS AL 8例 ,WT1阳性率为 5 0 .0 % (4 /8)。 16例正常健康对照者 WT1阳性率为 0 (0 /16)。结论 :WT1基因在 MDS中呈较高表达 ;WT1基因在 MDS的 RAEB、RAEB t中表达率较高 ,在 RA中表达率较低。RT PCR方法灵敏度高 ,特异性强 ,可作为监测 MDS疾病进程及向

Objective: To observe expression of Wilms' tumor1 (WT1) gene in the different s ubtypes of myelodysplastic syndrome(MDS), and to explore the regularity of expression o f WT1 gene in the process of MDS transforming into acute leukemia(AL). Methods: The method of reverse transcriptasepolymerase chain reaction(RTPCR) was used, the lev els of WT1 gene's presentation in different types of montagers of MDS were analy zed, and the relationship between the level and the clinical characteristic was analyzed. At the same t ime, the expression of WT1 gene in AL patients, postMDSAL patients and normal controls were examined. Results: The positive rate of WT1 gene expression in 49 patients with MDS was 22 4 perc ent ( 11/49), refractory anemia (RA) was 0(0/13), RA with excess of blast(RAE B) was 25 0 percent (6/24), RAEB in transformation(RAEBt) was 41 7 perc ent ( 5/12). The positive rates of WT1 expression were gradually increased in thre e types of MDS(P<0 05 and P<0 01). The positive rates of WT1 e xpression were higher in AL and post MDSAL patients (48 5 percent , 32/66 and 50 0 percent, 4/8) than that in MDS patients (P<0 01). There was no expression of WT1 gene in no rmal control. Conclusion: There is a relatively high expression rate of WT1 gene in RAEB, RAEBt of MDS, but relatively low expression rate in RA. The method of RTPCR, is high sensitiveness and specificity, can trustful be used in the proc ession of monitoring MDS' progression and its transformation into AL.