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以往应用基因芯片对骨髓增生异常综合征(MDS)患者细胞的基因表达谱的研究发现,RAS蛋白超家族成员RAP1GAP转录水平被上调,并在MDS患者大量病例中应用定量RT-PCR得到证实。本研究探讨MDS细胞中RAP1GAP的表达及其与临床的相关性。应用流式细胞术检测19例MDS患者骨髓细胞内RAP1GAP的表达,并与非恶性血液病以及急性白血病患者骨髓细胞中RAP1GAP的表达进行比较。对RAP1GAP表达水平与MDS患者的血红蛋白水平,白细胞计数,血小板计数,骨髓细胞中原始细胞的百分数以及IPSS危险积分等临床指标之间的相关性进行了分析。结果发现,RAP1GAP的表达在MDS患者骨髓细胞中显著高于非恶性血液病或急性白血病的细胞内的表达(8.420±8.365%比2.974±4.750%或2.256±4.239%)。在MDS患者中,MDS-RA的RAP1GAP表达显著高于MDS-RAEB内的表达(11.637±9.067%比4.368±4.646%)。然而,在检测的MDS患者中RAP1GAP的表达水平与上述临床指标无确切的相关性。结论:RAP1GAP在MDS中的表达明显增高,RAP1GAP表达水平与临床实验室血液学参数及IPSS积分之间无相关性。RAP1GAP表达在MDS进展至AML中的作用及其临床意义值得进一步探讨。
In the past, gene expression profiling of cells in patients with myelodysplastic syndrome (MDS) revealed that RAP1GAP transcription was upregulated in RAS protein superfamily and confirmed by quantitative RT-PCR in a large number of patients with MDS. This study was to investigate the expression of RAP1GAP in MDS cells and its clinical relevance. Flow cytometry was used to detect the expression of RAP1GAP in bone marrow cells of 19 patients with MDS and compared with the expression of RAP1GAP in non-hematologic malignancies and bone marrow cells of patients with acute leukemia. The correlation between RAP1GAP expression level and MDS patients’ hemoglobin level, white blood cell count, platelet count, percentage of blasts in bone marrow cells and IPSS risk score were analyzed. As a result, it was found that the expression of RAP1GAP was significantly higher in the bone marrow cells of MDS patients than in the non-hematologic or acute leukemia cells (8.420 ± 8.365% vs 2.974 ± 4.750% or 2.256 ± 4.239%). In MDS patients, RAP1 GAP expression was significantly higher in MDS-RA than in MDS-RAEB (11.637 ± 9.067% vs 4.368 ± 4.646%). However, there is no exact correlation between the level of RAP1GAP expression in the MDS patients tested and the above clinical parameters. CONCLUSION: The expression of RAP1GAP in MDS is significantly increased. There is no correlation between RAP1GAP expression and clinical laboratory hematology parameters and IPSS score. The role of RAP1GAP expression in the progression of MDS to AML and its clinical significance warrant further investigation.