During the past decade, substantial progress has been made in the field of the genetics of myelodysplastic syndromes (MDS). These comprise a group of chronic myeloid neoplasms with abnormal cell morphology and progression to acute myeloid leukemia (AML), where revolutionary sequencing technologies have played a major role. Through extensive sequencing of a large number of MDS genomes, a comprehensive registry of driver mutations involved in the pathogenesis of MDS has been revealed, along with their impacts on clinical phenotype and prognosis. The most frequently affected molecules are involved in DNA methylations, chromatin modification, RNA splicing, transcription, signal transduction, cohesin regulation, and DNA repair. These mutations show strong positive and negative correlations with each other, suggesting the presence of functional interactions between mutations, which dictate disease progression. Because these mutations are associated with disease phenotype, drug response, and clinical outcomes, it is essential to be familiar with MDS genetics not only for better understanding of MDS pathogenesis but also for management of patients.

中文翻译：

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骨髓增生异常综合症的遗传基础。

在过去的十年中，骨髓增生异常综合症（MDS）的遗传学领域取得了实质性进展。这些包括一组具有异常细胞形态并发展为急性骨髓性白血病（AML）的慢性骨髓性肿瘤，其中革命性测序技术发挥了重要作用。通过大量MDS基因组的广泛测序，已揭示了与MDS发病机制有关的驱动程序突变的全面注册表，以及它们对临床表型和预后的影响。受影响最频繁的分子涉及DNA甲基化，染色质修饰，RNA剪接，转录，信号转导，粘着蛋白调节和DNA修复。这些突变之间显示出很强的正相关和负相关，提示突变之间存在功能相互作用，这决定了疾病的进展。因为这些突变与疾病表型，药物反应和临床结果相关，所以不仅要更好地了解MDS发病机理而且要对患者进行管理，必须熟悉MDS遗传学。