Guo Juan, Chang Chun-Kang, Li Xiao
Department of Hematology, Shanghai Jiaotong University, Shanghai, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Aug;20(4):1020-4.
Myelodysplastic syndrome (MDS) is clonal disorder of hematopoiesis characterized by inefficient hematopoiesis, peripheral blood cytopenias, aberrant differentiation, and risk of progression to acute myeloid leukemia. Although specific karyotypic abnormalities have been found to link to MDS for decades, more recent findings have demonstrated the importance of mutations within individual genes. The recent molecular abnormalities found in MDS include following gene mutation such as TET2, TP53, RUNX1, ASXL1, IDH1/IDH2, EZH2 and RAS. In this review, the recent advances of prognostic molecular markers of MDS and their biological and clinical significance are summarized.
骨髓增生异常综合征（MDS）是一种造血克隆性疾病，其特征为造血功能低下、外周血细胞减少、分化异常以及进展为急性髓系白血病的风险。尽管数十年来已发现特定的核型异常与MDS相关，但最近的研究结果表明单个基因内突变的重要性。MDS中发现的近期分子异常包括以下基因突变，如TET2、TP53、RUNX1、ASXL1、IDH1/IDH2、EZH2和RAS。在本综述中，总结了MDS预后分子标志物的最新进展及其生物学和临床意义。
