Single-cell RNA sequencing distinctly characterizes the wide heterogeneity in pediatric mixed phenotype acute leukemia

We analyzed over 40,000 cells from nine pediatric MPAL BM samples to generate a single-cell transcriptomic landscape of B/Myeloid (B/My) and T/Myeloid (T/My) MPAL blasts and associated microenvironment cells. Cell clusters were identified using principal component analysis and uniform manifold approximation and projection (UMAP). Supervised differentially expressed gene (DEG) analysis was performed to identify B/My and T/My MPAL blast-specific signatures. MPAL sample transcriptome profiles were compared with normal BM stem and immune cells to identify MPAL-specific dysregulation. We have for the first time described the single-cell transcriptomic landscape of pediatric MPAL and have demonstrated that B/My and T/My MPAL have unique scRNA-seq profiles distinct from each other with expected overlap with AML and their respective ALL subtype. We generated scRNA-seq data from cryopreserved bone marrow (BM) samples using 10x Genomics 3' Single-Cell RNA profiling approach. *** Raw data not included due to patient privacy concerns. ***