摘要目的 探讨不同类型及不同危险度分级骨髓增生异常综合征(MDS)患者RIZ1 mRNA的表达及其与临床特征的相关性.方法 收集2014年1月至2017年12月清华大学附属垂杨柳医院及山西医科大学第二医院收治的46例初发MDS患者和10名健康对照者(均为造血干细胞移植术供者),采用实时荧光定量聚合酶链反应(RT-PCR)检测MDS患者及健康对照者骨髓细胞中RIZ1 mRNA表达水平.结果 与健康对照者相比,MDS患者的RIZ1 mRNA相对表达量下降[中位数(P25,P75):0.557(0.333,0.815)比1.003(0.895,1.812)],差异有统计学意义(Z=-2.991,P=0.0003).依据世界卫生组织(WHO)分型,难治性贫血/环形铁粒幼细胞性难治性贫血/难治性血细胞减少伴多系发育异常(RA/RAS/RCMD)、难治性贫血伴有原始细胞过多Ⅰ(RAEB-Ⅰ)、难治性贫血伴有原始细胞过多Ⅱ(RAEB-Ⅱ)、MDS转变成急性髓系白血病(MDS/AML)组和健康对照组的RIZ1 mRNA相对表达量比较,差异有统计学意义(χ2=19.500,P<0.01);进一步两两比较结果显示,RAEB-Ⅰ、RAEB-Ⅱ、MDS/AML组的RIZ1 mRNA相对表达量均低于健康对照组,差异均有统计学意义(均P<0.05).依据国际预后评分系统(IPSS)分类,低危、中危-1、中危-2及高危组MDS患者和健康对照组的RIZ1 mRNA相对表达量比较,差异有统计学意义(χ2=19.214,P=0.001);进一步两两比较结果显示,中危-1、中危-2及高危组的RIZ1 mRNA相对表达量均低于健康对照组,差异均有统计学意义(均P<0.05),并且随疾病危险度分级升高,RIZ1 mRNA表达呈下降趋势.RIZ1 mRNA表达水平与患者年龄、性别、外周血白细胞计数、血红蛋白、血小板计数及染色体核型均无相关性(均P>0.05).结论 MDS患者RIZ1 mRNA表达水平下降,且在不同类型及不同危险度分级中表达存在差异,该基因可能参与MDS发病机制,并与疾病进展有关.

abstractsObjective To explore RIZ1 mRNA expression level in different subtypes and risk classification groups of the patients with myelodysplastic syndromes (MDS) and to analyze the correlation between the clinical features and RIZ1 mRNA expression. Methods A total of 46 newly diagnosed as MDS patients and 10 healthy controls who were the donors of hematopoietic stem cell transplantation from Chuiyangliu Hospital Affiliated to Tsinghua University and the Second Hospital of Shanxi Medical University between January 2014 and December 2017 were collected. The real time fluorescence quantitative polymerase chain reaction (RT-PCR) was used to detect the expression level of RIZ1 mRNA in bone marrow cells from MDS patients and the healthy controls. Results Compared with the healthy control group, the relative expression level of RIZ1 mRNA in MDS patients was decreased [the median (P25, P75):1.003 (0.895, 1.812) vs. 0.557 (0.333, 0.815)], and the difference was statistically significant (Z= -2.991, P= 0.0003). According tothe World Health Organization (WHO) classification criteria, compared with the healthy control group, the relative expression of RIZ1 mRNA in refractory anemia/refractory anemia with ring sideroblasts/refractory cytopenia with multiple dysplasia (RA/RAS/RCMD), refractory anemia with excess blasts Ⅰ (RAEB-Ⅰ), RAEB-Ⅱand MDS transformed into acute myeloid leukemia (MDS/AML) groups had statistically significant differences (χ2= 19.500, P< 0.01). Further pairwise comparison showed that the relative expression level of RIZ1 mRNA in RAEB-Ⅰ, RAEB-Ⅱand MDS/AML groups was lower than that in the healthy control group, and the differences were statistically significant (all P < 0.05). According to the international prognostic scoring system (IPSS), compared with the healthy control group, the expression of RIZ1 mRNA in low-risk, inter-risk-1, inter-risk-2 and high-risk group had statistical differences (χ2= 19.214, P= 0.001). Further pairwise comparison showed that the relative expression of RIZ1 mRNA in inter-risk-1, inter-risk-2 and high risk group was lower than that in the healthy control group, and the differences were statistically significant (all P<0.05). And RIZ1 mRNA expression showed a decreasing trend with the increase of disease risk grade. RIZ1 mRNA expression level had no relationship with age, gender, peripheral blood white cell count, the hemoglobin, platelet count and karyotype (all P> 0.05). Conclusion RIZ1 mRNA expression level is decreased in MDS patients, and it is different in various subtypes and risk classification. RIZ1 may involve in the pathogenesis of MDS and play an important role in the progression of MDS.