急性和慢性髓系白血病患者SALL4基因的表达

摘要

本研究旨在探讨急性髓系白血病(acute myeloid leukemia,AML)和慢性髓系白血病(chronic myeloid leukemia,CML)患者中SALL4基因的水平状态及其临床意义.应用RQ-PCR方法检测35例AML、12例CML患者和24例缺铁性贫血患者(作为对照)骨髓单个核细胞(BMMNC) SALL4 mRNA表达水平.结果表明,AML患者SALL4表达水平(0％-14％,中位1.43％)明显高于对照组(0％-1％,中位0％)(P＜0.001),65.7％ (23/35) AML患者中SALL4转录本呈阳性,SALL4表达频率依次为M2(86.7％,13/15)、M3(75.0％,6/8)、M1 (60.0％,3/5)、M4(14.3％,1/7),4组间的差异有显著性(P=0.008)；SALL4表达频率与AML患者年龄、性别、白细胞计数、血红蛋白浓度、血小板计数和染色体异常均无相关性(P＞0.05).13例CML患者中SALL4转录本均为阳性表达,相对含量为1％-128％(中位19.39％),明显高于对照组(P ＜0.001).采用接收者操作特征曲线(receiver operating characteristic curve,ROC曲线)分析显示,AML和CML曲线下面积(AUC)分别为0.983(95％可信区间0.95-1.017)和0.997(95％可信区间0.986-1.007).结论:SALL4基因表达是AML和CML中常见的分子事件并且可考虑作为AML和CML辅助诊断的分子标记.%The aim of this study was to investigate the expression level of the SALLA gene and its clinical significance in patients with acute myeloid leukemia ( AML) and chronic myeloid leukemia (CML). Real-time quantitative PCR (RQ-PCR) was performed to detect the expression level of SALL4 mRNA in bone marrow mononuclear cells (BMMNC) from 35 AML, 12 CML patients and 24 iron deficiency anemia patients as controls. The results indicated that the expression level of SALL4 in AML (0% - 14% , median 1. 43% ) was obviously higher than that in controls (0% - 1 % , median 0% ) (P < 0. 001). SALL4 expression was positive in 65. 7% (23/35) AML patients. The frequency of SALL4 expression was in M2 (86. 7% , 13/15) > M3 (75. 0% , 6/8) > Ml (60. 0% , 3/5) > M4 ( 14. 3% , 1/7) , and the difference among 4 groups was statistically significant (P =0.008) ; there was no correlation of the frequency of SALLA expression with the age, sex, white blood cell WBC count, hemoglobin concentration, platelet count and chromosomal abnormalities of AML patients (P > 0.05). All the 13 CML cases showed positive expression of SALL4 gene (1 % - 128% , median 19. 39% ), which was higher than that in controls ( P < 0. 001). The analysis of receiver operating characteristic (ROC) curve showed the area under ROC curve (AUC) of AML and CML were 0.983 (95% confidence interval; 0. 95 - 1. 017) and 0. 997 (95% confidence interval; 0. 986 - 1. 007) respectively. It is concluded that SALLA expression is a common molecular event and can be considered as a molecular marker for assisting diagnosis of AML and CML.