Invariant patterns of clonal succession determine specific clinical features of Myelodysplastic syndromes (MDS)

Myelodysplastic Syndromes (MDS) are heterogeneous myeloid neoplasms, characterized by stepwise acquisitions of multiple somatic mutations. Mutational configurations (e.g. bi-allelic) and specific distributions, timing of acquisitions corresponding to rank within the clonal hierarchy, and combinatorial spectrum are not elucidated. Therefore, we conducted targeted deep sequencing in a panel of the 36 most frequently mutated "myeloid" genes in terms more than of 500 patients with MDS or related myeloid neoplasms.

骨髓增生异常综合征（Myelodysplastic Syndromes, MDS）是一类异质性髓系肿瘤，其特征为逐步累积多组体细胞突变。目前，其突变构型（如双等位基因突变）、特定分布模式、对应克隆层级排名的突变发生时序，以及突变组合谱均尚未被阐明。因此，本研究针对超过500名骨髓增生异常综合征或相关髓系肿瘤患者，采用包含36种最常发生突变的髓系基因的检测面板开展靶向深度测序。