中华医学杂志（英文版）2002，Vol.115Issue(7)：987-990,4.
急性白血病及骨髓增生异常综合征患者p15INK4B基因高甲基化
Hypermethylation of the p15INK4B gene in acute leukemia and myelodysplastic syndromes
摘要
Abstract
Objective To detect the methylation pattern of the p15INK4B gene and to explore its significance in the pathogenesis of acute leukemia (AL) and leukemic transformation of myelodysplastic syndromes (MDS). Methods A total of 49 AL cases and 22 MDS cases were analyzed by methylation specific polymerase chain reaction (MSP) for methylation patterns in CpG islands of the p15INK4B gene. Results Hypermethylation of the p15INK4B gene was found in 90% (26/29) of newly diagnosed AL, including 46% with complete methylation and 54% with partial methylation. All 3 evolved AL from MDS and 9 relapsed AL showed a methylated p15INK4B gene and the proportion of complete methylation was 67% and 56% respectively. Only 5 of 11 (45%) AL in remission, including 2 in complete remission (CR) and 3 in partial remission (PR), were partially methylated. The frequency of p15INK4B gene methylation in newly diagnosed or relapsed AL was significantly higher than that in AL in the remission stage (P=0.002). P15INK4B gene methylation was found in 5 of 13 (38%) low-risk MDS (RA/RAS) patients and 80% of them showed only partial methylation. However, p15INK4B gene methylation was found in all 9 cases in the high-risk group (RAEB/RAEB-T), including complete methylation in 56%, significantly different from the low-risk MDS group (P=0.002). Conclusions Hypermethylation of the p15INK4B gene occurs frequently in leukemia and high-risk MDS. It is possible that hypermethylation of this gene is related to the pathogenesis and development of AL and MDS. It may be used as a gene marker to detect minimal residual disease, relapse of AL and leukemic transformation in MDS.关键词
抑癌基因,p15INK4B DNA甲基化 急性白血病 骨髓增生异常综合征Key words
suppressor gene, p15INK4B/DNA methylation/acute leukemia/myelodysplastic syndromes分类
医药卫生引用本文复制引用
陈华,武淑兰..急性白血病及骨髓增生异常综合征患者p15INK4B基因高甲基化[J].中华医学杂志（英文版）,2002,115(7):987-990,4.基金项目
This study was supported in part by a grant from Ministry of Public Health of China (No. 94-1-250). （No. 94-1-250）
