Longitudinal single-cell transcriptomics reveals distinct patterns of recurrence in acute myeloid leukemia.

ABSTRACT:

Background

Acute myeloid leukemia (AML) is a heterogeneous and aggressive blood cancer that results from diverse genetic aberrations in the hematopoietic stem or progenitor cells (HSPCs) leading to the expansion of blasts in the hematopoietic system. The heterogeneity and evolution of cancer blasts can render therapeutic interventions ineffective in a yet poorly understood patient-specific manner. In this study, we investigated the clonal heterogeneity of diagnosis (Dx) and relapse (Re) pairs at genetic and transcriptional levels, and unveiled the underlying pathways and genes contributing to recurrence.

Methods

Whole-exome sequencing was used to detect somatic mutations and large copy number variations (CNVs). Single cell RNA-seq was performed to investigate the clonal hete

SUBMITTER: Zhai Y 

PROVIDER: S-EPMC9389773 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature