Genome sequencing in the management of myelodysplastic syndromes and related disorders.

Within these disorders, myelodysplastic syndromes (MDS) are specifically characterized by morphological abnormalities (dysplasia) and impaired maturation of myeloid precursors (ineffective hematopoiesis), resulting in peripheral blood cytopenia.

在这些疾病中，骨髓增生异常综合征（MDS）特别以骨髓前体细胞的形态学异常（发育不良）和成熟障碍（无效造血）为特征，导致外周血细胞减少。

Several studies have advanced the field of MDS, with a few landmark papers leading to a paradigm shift, opening new avenues of research and enabling a molecular revolution.

多项研究推动了骨髓增生异常综合征（MDS）领域的发展，其中一些具有里程碑意义的论文导致了范式转变，开辟了新的研究途径，并促进了分子革命的到来。

These seminal papers include the first description of the 5q- syndrome, the identification of somatic mutations of TET2 in myeloid neoplasms, the detection of common pathway mutations in the splicing machinery, and the discovery of clonal hematopoiesis.

这些开创性的论文包括首次描述了5q-综合征，鉴定出骨髓增生异常综合征中TET2的体细胞突变，检测到剪接机制中共同途径的突变，以及发现了克隆性造血。

The somatic genomic landscape of MDS is now well defined.

现在，骨髓增生异常综合征（MDS）的体细胞基因组景观已经得到了很好的定义。

Genes that are recurrently mutated include epigenetic regulators, as well as genes of RNA splicing machinery, transcription regulation, DNA repair control, cohesin complex, and signal transduction.

反复突变的基因包括表观遗传调控基因，以及RNA剪接机制、转录调控、DNA修复控制、粘连复合体和信号传导的基因。

Furthermore, several disorders with a germline genetic predisposition to MDS have been identified, collectively accounting for up to 15% of all MDS cases.

此外，已经确定了几种具有遗传倾向的MDS疾病，这些疾病共同占所有MDS病例的15%。

Genomic profiling can significantly improve the diagnostic approach to MDS, allowing the identification of distinct nosological entities such as SF3B1-mutant or TP53-mutant MDS.

基因组分析可以显著改善MDS的诊断方法，允许识别出如SF3B1突变或TP53突变的MDS等不同的疾病实体。

The Molecular International Prognostic Scoring System for MDS has already proven to be a valuable tool for individualized risk assessment and treatment decisions.

分子国际预后评分系统（MIPSS）对于骨髓增生异常综合征（MDS）已被证明是个性化风险评估和治疗决策的宝贵工具。

In addition, the recently developed molecular taxonomy of MDS will likely facilitate the implementation of precision medicine approaches for these disorders.

此外，最近开发的MDS分子分类学很可能会促进这些疾病精准医学方法的实施。

This will necessitate the establishment of specialized infrastructures within public health systems, involving close collaboration between healthcare institutions, academia, and the life-sciences industry.

这将需要在公共卫生系统内建立专门的基础设施，涉及医疗保健机构、学术界和生命科学产业之间的紧密合作。