Comprehensive genomic analysis of myeloid/natural killer cell precursor acute leukemia (MNKPL)

Whole exome sequencing and whole genome sequencing were performed using DNA isolated from MNKPL to identify genomic landscape. To investigate expression profiles of MNKPL, RNA sequencing (RNA-seq) was performed using RNA isolated from MNKPL. To clarify the origin and heterogeneity of MNKPL, single cell RNA-seq was conducted using leukemia cells of MNKPL and bone marrow mononuclear cells and CD34 positive bone marrow cells of a healthy donor. Overall design: WES was performed using 18 samples in 13 cases (6 tumor/germline pairs, 6 tumor only sample). Whole genome sequencing was conducted in 6 cases. RNA-seq was performed in 6 cases. Single cell RNA-seq was performed in 2 MNKPL cases and 1 healthy donor.