Molecular and Functional Characterization of Disease-Propagating Stem Cells in Juvenile Myelomonocytic Leukemia [FACS sorted populations]

We report on the characterization of JMML hematopoietic stem and progenitor cells (HSPCs). In order to molecularly characterize these populations we preformed bulk RNA-seq on purified cord blood and JMML HSCs, GMPs, and JMML double positives (+/+). We identified a conserved molecular hierarchy in JMML with high stem cell gene expression in HSCs, high progenitor and cell cycle gene expression in GMPs. We identified enriched gene sets in JMML HSCs vs CB HSCs, and find a number of potential therapeutic targets expressed in JMML. Overall design: mRNA sequencing of human cord blood and JMML HSPC populations