Application of next-generation sequencing in the treatment of myelodysplastic syndrome: from mechanisms to clinical practice.

Myelodysplastic syndrome (MDS) is a malignant clonal disorder originating from hematopoietic stem and progenitor cells and is characterized by ineffective hematopoiesis and a high propensity for transformation into acute leukemia. Research has indicated that the pathogenesis of MDS is closely linked to genetic mutations and that its progression may encompass multiple stages, including cytogenetic and molecular alterations, leading to the acquisition of oncogenic mutations. The widespread application of next-generation sequencing (NGS) technologies, including whole-genome sequencing, whole-exome sequencing, and RNA sequencing, has significantly improved our understanding of the genetic alterations and transcriptomic modifications underlying MDS. These technologies not only deepen our understanding of molecular mechanisms but also facilitate the identification of potential therapeutic targets and prognostic biomarkers. Consequently, the 2022 World Health Organization Classification and the International Consensus Classification have incorporated molecular features into the MDS classification system, and the Molecular International Prognostic Scoring System (IPSS-M) was introduced. This review aims to summarize the role of NGS in the precise diagnosis, classification, risk assessment, treatment selection, and evaluation of therapeutic effectiveness in MDS, with implications for advancing precision medicine in hematological malignancies.