Characterization of bone marrow heterogeneity in NK-AML (M4/M5) based on single-cell RNA sequencing

Exp Hematol Oncol. 2023 Mar 6;12(1):25. doi: 10.1186/s40164-023-00391-5.

Abstract

Normal karyotype acute myeloid leukemia (NK-AML) is a heterogeneous hematological malignancy that contains a minor population of self-renewing leukemia stem cells (LSCs), which complicate efforts to achieve long-term survival. We performed single-cell RNA sequencing to profile 39,288 cells from 6 bone marrow (BM) aspirates including 5 NK-AML (M4/M5) patients and 1 healthy donor. The single-cell transcriptome atlas and gene expression characteristics of each cell population in NK-AML (M4/M5) and healthy BM were obtained. In addition, we identified a distinct LSC-like cluster with possible biomarkers in NK-AML (M4/M5) and verified 6 genes using qRT‒PCR and bioinformatic analyses. In conclusion, we utilized single-cell technologies to provide an atlas of NK-AML (M4/M5) cell heterogeneity, composition, and biomarkers with implications for precision medicine and targeted therapies.

Keywords: Heterogeneity; Leukemia stem cell; Normal karyotype acute myeloid leukemia; Single-cell RNA sequencing.