Advances in DNA/RNA Sequencing and Their Applications in Acute Myeloid Leukemia (AML)

Abstract

Acute myeloid leukemia (AML) is an aggressive malignancy that poses significant challenges due to high rates of relapse and resistance to treatment, particularly in older populations. While therapeutic advances have been made, survival outcomes remain suboptimal. The evolution of DNA and RNA sequencing technologies, including whole-genome sequencing (WGS), whole-exome sequencing (WES), and RNA sequencing (RNA-Seq), has significantly enhanced our understanding of AML at the molecular level. These technologies have led to the discovery of driver mutations and transcriptomic alterations critical for improving diagnosis, prognosis, and personalized therapy development. Furthermore, single-cell RNA sequencing (scRNA-Seq) has uncovered rare subpopulations of leukemia stem cells (LSCs) contributing to disease progression and relapse. However, widespread clinical integration of these tools remains limited by costs, data complexity, and ethical challenges. This review explores recent advancements in DNA/RNA sequencing in AML and highlights both the potential and limitations of these techniques in clinical practice.