【摘要】 目的:探讨骨髓增生异常综合征(myelo dysplastic syndrome,MDS)患者发生与演变相关基因。方法:采用RT-PCR方法测定WT1、Evi1、Evi1-MDS1和微卫星遗传不稳定性。结果:Evi1和MDS1-Evi1基因阳性表达率分别为51·9%(14/27)和62·9%(17/27)。其中低危组RA/RAS和高危组RAEB/RAEB-T/CMML的Evi1基因总表达率分别占14·8%(4/27)和37·0%(10/27),MDS1-Evi1基因总表达率分别占25·9%(7/27)和37·0%(10/27);MDS患者WT1表达阳性率为55·6%(15/27),低危组RA/RAS和高危组RAEB/RAEB-T/CMML的WT1基因总表达率分别占14·8%(4/27)和40·7%(11/27);MDS患者微卫星遗传不稳定性检测结果表明,6例RA患者中发生Mfd27位点LOH0例,MI1例,9p21位点发生LOH1例,MI0例。5例RAS中发生Mfd27位点LOH2例,MI0例,9p21位点发生LOH0例,MI0例,低危组RA/RAS患者发生LOH或MI的共4例。7例RAEB中发生Mfd27位点LOH2例,MI0例,9p21位点发生LOH0例,MI1例,7例RAEB-T中发生Mfd27位点LOH1例,MI3例,9p21位点发生LOH0例,MI1例,2例CMML中1例Mfd27位点发生LOH。高危组RAEB/RAEB-T/CMML患者发生LOH或MI的共9例。结论:WT1、Evi1和微卫星遗传不稳定性与MDS发生和演变有关。更多还原

【Abstract】 OBJECTIVE:To detect the mechanism of pathogenesis and its transformation of myelodysplastic syndrome. METHODS: Expressions of Evi1 and MDS1-Evi1 genes were examined by semi-quantative RT-PCR. Nest RT-PCR technique was used to detect the expression of WT1 gene.The loss of heterozygosity (LOH) and the microsatellite instability (MSI) of Mfd27 and 9p21 polymorphic microsatellite markers were assayed by standard PCR-silver staining analysis in bone marrow cells. RESULTS: Evi1 and MDS1-Evi1 were negative in 6 patients with AA (aplastic anemia). The Evi1 expression percent was 51.8% in 14 of 27 patients, white the MDS1-Evi1 expression percent was 62.96%. The total expression percent of Evi1 gene in RAEB/RAEB-T/CMML was higher than that in RA/RAS group. Otherwise,there was no difference of MDS1-Evi1 gene expression between RA/RAS and RAEB/RAEB-T/CMML groups. The WT1 percent in patients with MDS was higher than that in AA patients,with 55.6%(15/27) and 0(0/6) respectively. The total WT1 percent (40.7%) of patients with RAEB/RAEB-T/CMML was higher than that (14.8%) of patients with RA/RAS. The loss of heterozygosity (LOH), the microsatellite instability (MSI) of Mfd27 and 9p21 polymorphic microsatellite markers were detected and analysed in patients with MDS. The positive percent of LOH or MSI in RAEB/RAEB-T/CMML group was higher than that in RA/RAS group, with 36.3%(4/11) and 56.5%(9/16) respectively. CONCLUSIONS: The loss of heterozygosity (LOH) and the microsatellite instability (MSI) of Mfd27 and 9p21 polymorphic microsatellite markers, and the expressions WT1 and Evi1 are related to the pathogenesis and transformation of MDS.更多还原