Whole exome sequencing and single-cell DNA sequencing for assessment of clonal heterogeneity and evolution in acute myeloid leukemia.

ABSTRACT:

Background

Acute myeloid leukemia (AML) progresses by the accumulation of somatic mutations and clonal expansion of pre-leukemic cells. Patients may respond to initial therapy, but often relapse, underscoring an evolving disease. Next generation sequencing technologies are being applied to AML for risk stratification and monitoring treatment response. We aimed to evaluate the efficiency of whole exome sequencing (WES) and single-cell DNA sequencing (scDNA-seq) for determining clonal heterogeneity and evolution in AML induced by treatment, assessing strengths and limitations of each technology.

Methods

We conducted WES and scDNA-seq on samples from 6 patients with AML, including sequential samples from four patients. We identified somatic variants, clonal composition and phyl

SUBMITTER: Adhikari S 

PROVIDER: S-EPMC12731275 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature