期刊
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL
卷 96, 期 12, 页码 1870-1873出版社
FERRATA STORTI FOUNDATION
DOI: 10.3324/haematol.2011.045559
关键词
DNMT3A mutations; MDS occurrence
类别
资金
- Dieter-Schlag Stiftung
- Deutsche-Jose-Carreras Leukamie-Stiftung e.V. [DJCLS R 10/22]
- Deutsche Krebshilfe e.V [109003, 109686]
- H.W. & J. Hector Stiftung [M 47.1]
Gene mutations and epigenetic changes have been shown to play significant roles in the pathogenesis of myelodysplastic syndromes. Recently, mutations in DNMT3A were identified in 22.1% of patients with acute myeloid leukemia. In this study, we analyzed the frequency and clinical impact of DNMT3A mutations in a cohort of 193 patients with myelodysplastic syndromes. Mutations in DNMT3A were found in 2.6% of patients. The majority of mutations were heterozygous missense mutations affecting codon R882. Patients with DNMT3A mutations were found to have a higher rate of transformation to acute myeloid leukemia. When assessing the global methylation levels in patients with mutated versus unmutated DNMT3A and healthy controls no difference in global DNA methylation levels between the two groups was seen. Our data show that in patients with myelodysplastic syndromes, DNMT3A mutations occur at a low frequency and may be a risk factor for leukemia progression.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据