Deng Yin-Fen, Zhang Lei, Zhang Xiu-Qun, Hu Ming-Qiu, Dai Dan, Zhang Xue-Zhong, Xu Yan-Li
Department of Hematology, Nanjing Medical University, Nanjing, Jiangsu Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Oct;20(5):1144-8.
This study was aimed to detect the methylation status of FHIT gene promoter region in the DNA from plasma of patients with myelodysplastic syndrome (MDS), and to investigate the demethylating effect of decitabine. Methylation-specific PCR method was used to detect the methylation status of FHIT gene promoter region in the DNA from plasma of 4 patients with MDS before and after treatment with decitabine plus semis CAG therapy (among them, 1 case of newly diagnosed MDS, 3 cases progressed into acute leukemia). The results indicated that 3 cases were found to have an increased methylation in the promoter region. After treatment with decitabine plus semis CAG, increased methylation was reversed in 2 cases. In 4 cases, 2 cases displayed clinical response. It is concluded that FHIT gene hypermethylation is associated with MDS pathogenesis. Decitabine has demethylating effect on the FHIT gene hypermethylation of plasma from MDS patients. Detecting the methylation status of FHIT gene in DNA from plasma may play a role in MDS auxiliary diagnosis or prognosis.
本研究旨在检测骨髓增生异常综合征（MDS）患者血浆DNA中FHIT基因启动子区域的甲基化状态，并探讨地西他滨的去甲基化作用。采用甲基化特异性PCR方法检测4例接受地西他滨联合半量CAG方案治疗前后（其中1例为新诊断MDS，3例进展为急性白血病）的MDS患者血浆DNA中FHIT基因启动子区域的甲基化状态。结果显示，3例患者启动子区域甲基化增加。地西他滨联合半量CAG方案治疗后，2例患者甲基化增加得到逆转。4例患者中，2例出现临床反应。结论：FHIT基因高甲基化与MDS发病机制有关。地西他滨对MDS患者血浆中FHIT基因高甲基化有去甲基化作用。检测血浆DNA中FHIT基因的甲基化状态可能在MDS辅助诊断或预后判断中发挥作用。
