High-throughput genomic profiling in chronic myelogenous leukemia: How far have we come, and what lies ahead?

Abstract

Chronic Myelogenous Leukemia (CML) is a hematological malignancy characterized by the BCR::ABL1 fusion gene, a hallmark of its pathogenesis. Advances in molecular biology and genomic technologies have significantly enhanced our understanding of CML, with Next-Generation Sequencing (NGS) emerging as a potential transformative tool in the field. This review explores the expanding role of NGS in the diagnosis, prognostic stratification, and treatment monitoring of CML. By enabling comprehensive genomic profiling, NGS facilitates the identification of genetic mutations and clonal evolution, offering insights beyond traditional diagnostic methods. Additionally, the application of NGS in detecting treatment-resistant mutations and monitoring minimal residual disease (MRD) underscores its utility in tailoring precision therapies. However, challenges such as technical complexities, integration into clinical workflows, and cost constraints remain barriers to widespread adoption. This review highlights the clinical implications of NGS in CML management and discusses future directions, including emerging sequencing technologies and potential synergies with advanced analytics. As NGS continues to evolve, its role in shaping personalized medicine and improving patient outcomes in CML is becoming increasingly evident. This review provides a comprehensive overview of these developments while addressing the current limitations and opportunities for future research.