Characterization of leukemia progression in the Cbfb-MYH11 knockin mice by single cell RNA sequencing

Leukemia. 2023 Jul;37(7):1549-1553. doi: 10.1038/s41375-023-01926-9. Epub 2023 May 24.

Abstract

A recurrent inversion of chromosome 16 fuses the genes CBFB and MYH11 and the resultant CBFβ-SMMHC fusion protein acts as a driver of the M4Eo subtype of acute myeloid leukemia (AML). This study utilized single cell RNA-sequencing (scRNA-seq) to assess gene expression changes during the disease progression from normal to pre-leukemic to overt leukemia in the conditional Cbfb-MYH11 knock-in mouse model. The study investigated dynamic shifts in cell types as disease progresses, and gene expression differences between normal and diseased cells. The study identified a novel cell population in the pre-leukemic state with expression of genes involved in immune activation. Overall, this study discovered hematopoietic cells first affected by the expression of CBFβ-SMMHC and identified unique signature genes for the pre-leukemic cells that separate them from the normal hematopoietic cellular milieu.

Publication types

  • Letter
  • Research Support, N.I.H., Intramural

MeSH terms

  • Animals
  • Chromosome Inversion
  • Chromosomes, Human, Pair 16
  • Core Binding Factor beta Subunit / genetics
  • Humans
  • Leukemia* / genetics
  • Leukemia, Myeloid, Acute* / genetics
  • Mice
  • Myosin Heavy Chains / genetics
  • Oncogene Proteins, Fusion / genetics
  • Sequence Analysis, RNA

Substances

  • Oncogene Proteins, Fusion
  • Core Binding Factor beta Subunit
  • MYH11 protein, human
  • Myosin Heavy Chains