Pathobiology. 2019;86(1):24-29. doi: 10.1159/000488712. Epub 2018 May 23.
The diagnosis and classification of myelodysplastic syndromes (MDS) are based on cytomorphology and cytogenetics (WHO classification). Prognosis is best defined by the Revised International Prognostic Scoring System (IPSS-R). In recent years, an increasing number of molecular aberrations have been discovered. They are already included in the classification (e.g., SF3B1) and, more importantly, have emerged as valuable markers for better classification, particularly for defining risk groups. Mutations in genes such as SF3B1 and IDH1/2 have already had an impact on targeted treatment approaches in MDS.
骨髓增生异常综合征（MDS）的诊断和分类基于细胞形态学和细胞遗传学（WHO 分类）。修订后的国际预后评分系统（IPSS-R）对预后的定义最佳。近年来，越来越多的分子异常被发现。它们已经被纳入分类（例如，SF3B1），更重要的是，已经成为更好分类的有价值的标志物，特别是用于定义风险组。SF3B1 和 IDH1/2 等基因的突变已经对 MDS 的靶向治疗方法产生了影响。
