Wang Lin-Lin, Gao Chong, Chen Bao-An
Department of Hematology, Southeast University Clinical Medical College, Nanjing 210009, Jiangsu Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2011 Feb;19(1):254-9.
Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell disorder characterized by ineffective hematopoiesis and a risk of transformation into acute leukemia. Approximately 30% of patients with MDS will progress and develop into acute myeloid leukemia (AML), especially in the patients with high-risk MDS, which can be named as secondary acute myeloid leukemia (sAML or MDS/AML). Generally, chemotherapy for sAML hardly has any efficacy. The only way to cure the patients with sAML is allogeneic hematopoietic stem cell transplantation, but unfortunately, only few patients are appropriate for transplantation. So it is important to study the mechanisms of progression of MDS to AML and to explore the potent drug for clinical use. This review summarizes the mechanism of MDS transformation into AML from chromosomal abnormality, aberrant DNA methylation and gene mutation, such as AML1/RUNX1 mutations, FLT3 mutations and PI-PLCβ1 mono-allelic deletion.
骨髓增生异常综合征（MDS）是一种克隆性造血干细胞疾病，其特征为造血无效以及有转化为急性白血病的风险。大约30%的MDS患者会进展并发展为急性髓系白血病（AML），尤其是高危MDS患者，这可被称为继发性急性髓系白血病（sAML或MDS/AML）。一般来说，sAML的化疗几乎没有任何疗效。治愈sAML患者的唯一方法是异基因造血干细胞移植，但不幸的是，只有少数患者适合移植。因此，研究MDS进展为AML的机制并探索有效的临床用药很重要。本综述总结了MDS从染色体异常、异常DNA甲基化和基因突变（如AML1/RUNX1突变、FLT3突变和PI-PLCβ1单等位基因缺失）转化为AML的机制。
