The myelodysplastic syndromes (MDS) represent a compendious group of clonal hematopoietic disorders characterized by ineffective hematopoiesis resulting in peripheral blood cytopenias and a significant risk of transformation to acute myeloid leukemia (AML). The degree of cytopenia, blast percentage, and presentation karyotype permit identification of patients with high-risk MDS whose outcome is particularly poor. Targeted mutational analysis has transformed our understanding of the pathogenesis of MDS and, at the same time, provided the tools for preliminary analyses of clonal structure. Acquired abnormalities in classes of genes determining chromatin structure, including mutations in DNMT3A, TET2, IDH1, and IDH2 (which influence CpG island methylation status) and EZH2 and ASZL1 (which contribute to the control of histone acetylation) are commonly observed in MDS and likely contribute to disease pathogenesis.¹

中文翻译：

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改善高危型骨髓增生异常的结果：Festina Lente

骨髓增生异常综合症（MDS）代表了一群无休止的克隆性造血疾病，其特征是造血功能低下，导致外周血细胞减少，并有转化为急性髓细胞性白血病（AML）的显着风险。血细胞减少症的程度，原始细胞百分数和呈递的核型可以鉴定出高危MDS患者，其结果特别差。靶向突变分析已改变了我们对MDS发病机理的理解，同时为初步分析克隆结构提供了工具。确定染色质结构的基因类别中的获得性异常，包括DNMT3A，TET2，IDH1和IDH2的突变（影响CpG岛甲基化状态）和EZH2和ASZL1（有助于组蛋白乙酰化的控制）通常在MDS中观察到，可能与疾病的发病机理有关。^1个