EGAGenomicsCancer Genomicshttps://ega-archive.org/studies/EGAS00001003760EGAEGA study EGAS00001003760RNA-sequencingWhole Exome SequencingrestrictedEGAfalseGenetics and transcriptomes of pediatric B cell precursor leukemia with gain of chromosome 21Down syndrome (DS, constitutive trisomy 21) children have a 27-fold increased risk of developing B-ALL (DS-ALL), face a worse outcome due to treatment-related morbidities, and an increased rate of relapses compared to other children. This highlights the need to better understand the mechanisms of DS-associated leukemogenesis to develop more adapted treatment. In this study, we characterized the genetic and transcriptomic landscapes of DS-ALL and found a high incidence of somatic mutations leading to RAS/MAPK pathway activation in DS-ALL, as seen in other pediatric B-ALL presenting somatic gains of the chromosome 21 (B-ALL+21).2022-02-21 13:14:33EGAS000010037609606EGAD00001005425EGAD00001005426EGAC00001001348