Deep genomic characterization of pediatric AML patients, Targeted RNAseq

Mutations and copy number changes of 141 myeloid genes as well as the fusion gene spectrum were investigated in 147 pediatric AML patients to identify new mutational patterns, disease mechanisms, prognosticators and genetic dependencies.

本研究对147例儿童急性髓系白血病（AML）患者的141个髓系基因的突变、拷贝数改变及融合基因谱展开分析，旨在识别新型突变模式、疾病发病机制、预后标志物及遗传依赖特征。