Single Cell Transcriptional Evolution of Myeloid Leukemia in Down Syndrome

This study examines how myeloid leukemia develops in children with Down syndrome, who have a 150-fold increased risk compared to other populations. Using single-cell RNA sequencing and genetic analysis, researchers identified how GATA1 mutations drive the transcriptional changes that characterize the disease progression from a pre-leukemic state through established myeloid leukemia.