Division of Hematology, Brigham and Women's Hospital, Boston, MA 02215, USA.
Annu Rev Pathol. 2013 Jan 24;8:21-47. doi: 10.1146/annurev-pathol-011811-132436. Epub 2012 Aug 28.
The clinicopathologic heterogeneity of myelodysplastic syndromes (MDS) is driven by diverse, somatically acquired genetic abnormalities. Recent technological advances have enabled the identification of many new mutations, which have implicated novel pathways in MDS pathogenesis, including RNA splicing and epigenetic regulation of gene expression. Molecular abnormalities, either somatic point mutations or chromosomal lesions, can be identified in the vast majority of MDS cases and underlie specific disease phenotypes. As the full array of molecular abnormalities is characterized, genetic variables are likely to complement standard morphologic evaluation in future MDS classification schemes and risk models.
骨髓增生异常综合征（MDS）的临床病理异质性是由多种获得性体细胞遗传异常驱动的。最近的技术进步使人们能够鉴定出许多新的突变，这些突变提示 MDS 发病机制中的新途径，包括 RNA 剪接和基因表达的表观遗传调控。在绝大多数 MDS 病例中，可以识别出分子异常，无论是体细胞点突变还是染色体病变，并构成特定的疾病表型。随着对所有分子异常的全面描述，遗传变量可能会在未来的 MDS 分类方案和风险模型中补充标准形态学评估。
