Myelodysplastic syndromes (MDS) are myeloid neoplasms characterized by dysplasia in one or more cell lines, ineffective hematopoiesis and variable risk of progression to acute myeloid leukemia. In the past few years, important steps have been taken in characterizing the molecular basis of MDS. More recently, somatic mutations in genes encoding core components of the RNA splicing machinery have been detected in high proportions of MDS patients, and are shown to be founding mutations in many instances. These mutations have different clinical significance, and their incorporation into current stratification systems might improve risk assessment in MDS.

骨髓增生异常综合征 (MDS) 是一种骨髓肿瘤，其特征是一种或多种细胞系发育异常、造血功能无效和进展为急性髓性白血病的风险不同。在过去的几年里，在表征 MDS 的分子基础方面已经采取了重要的步骤。最近，在高比例的 MDS 患者中检测到编码 RNA 剪接机制核心成分的基因中的体细胞突变，并且在许多情况下被证明是发现突变。这些突变具有不同的临床意义，将它们纳入当前的分层系统可能会改善 MDS 的风险评估。