Yao Dong-ming, Qian Jun, Xu Wen-rong, Lin Jiang, Jiang Yun-wei, Fei Xia, Han Lan-xiu, Wang Yali, Cen Jian-nong, Chen Zi-xing
The Affiliated People's Hospital, Jiangsu University, Zhengjiang, Jiangsu, People's Republic of China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):36-9.
To study the methylation status of fragile histidine triad (FHIT) gene promoter in patients with myelodysplastic syndrome (MDS) and its clinical relevance.
Methylation-specific PCR (MSP) was used to detect FHIT promoter methylation in bone marrow samples from 54 MDS cases.
Hypermethylation of FHIT promoter was detected in 26 cases (48.1%). Association was not found between FHIT gene hypermethylation and sex, hematologic parameters and chromosomal abnormalities of MDS patients, but found between FHIT gene hypermethylation and age of the MDS cases. Although significant difference was not observed in the frequencies of FHIT gene hypermethylation among patients with refractory anemia/refractory anemia with ringed sideroblasts (RA/RAS) (1/6, 16.7%), refractory anemia/refractory anemia with ringed sideroblasts (RCMD) and refractory cytopenia with multilineage dysplasia with ringed blasts (RCMD-RS) (6/19, 31.6%), refractory anemia with excess blasts-1 (RAEB-1) (7/11, 63.6%), refractory anemia with excess blasts-2 (RAEB-2) (4/7, 57.1%) and refractory anemia with excess blasts in transformation/acute myeloid leukemia (RAEBt/AML) (8/11, 72.7%)(chi-square=8.417, P=0.077), it was observed in patients in early stages (RA/RAS and RCMD) (7/25, 28.0%), advanced stages (RAEB-1 and RAEB-2)(11/18, 61.1%) and RAEBt/AML (8/11, 72.7%) (chi-square=7.938, P=0.019). Furthermore, there was a positive correlation between the frequency of FHIT gene hypermethylation and different IPSS groups (chi-square=10.110, P=0.018).
FHIT gene hypermethylation might be one of the molecular events involved in the disease progression of MDS.
研究骨髓增生异常综合征（MDS）患者中脆性组氨酸三联体（FHIT）基因启动子的甲基化状态及其临床相关性。
采用甲基化特异性PCR（MSP）检测54例MDS患者骨髓样本中FHIT启动子甲基化情况。
26例（48.1%）检测到FHIT启动子高甲基化。未发现FHIT基因高甲基化与MDS患者的性别、血液学参数及染色体异常之间存在关联，但发现与MDS病例的年龄有关。虽然难治性贫血/伴有环形铁粒幼细胞的难治性贫血（RA/RAS）（1/6，16.7%）、难治性血细胞减少伴多系发育异常（RCMD）和伴有环形原始细胞的难治性血细胞减少伴多系发育异常（RCMD-RS）（6/19，31.6%）、难治性贫血伴原始细胞增多-1（RAEB-1）（7/11，63.6%）、难治性贫血伴原始细胞增多-2（RAEB-2）（4/7，57.1%）以及转化中的难治性贫血伴原始细胞增多/急性髓系白血病（RAEBt/AML）（8/11，72.7%）患者中FHIT基因高甲基化频率未观察到显著差异（卡方=8.417，P=0.077），但在早期（RA/RAS和RCMD）患者（7/25，28.0%）、晚期（RAEB-1和RAEB-2）（11/18，61.1%）和RAEBt/AML（8/11，72.7%）患者中观察到差异（卡方=7.938，P=0.019）。此外，FHIT基因高甲基化频率与不同的国际预后评分系统（IPSS）组之间存在正相关（卡方=10.110，P=0.018）。
FHIT基因高甲基化可能是参与MDS疾病进展的分子事件之一。
