Biomarkers and advances in AML-MRC: from bench to bedside

Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) represents a high-risk subtype of AML, characterized by poor prognosis and limited therapeutic options. Recent updates in the WHO and ICC classifications have redefined AML-MRC, emphasizing molecular and cytogenetic criteria over morphological features alone. This review provides a comprehensive overview of the pathogenesis, key biomarkers, and diagnostic innovations in AML-MRC, highlighting the role of genetic mutations (e.g., TP53, RUNX1, and splicing factors), cytogenetic abnormalities, and immune microenvironment alterations. We explore advanced diagnostic techniques such as next-generation sequencing (NGS), minimal residual disease (MRD) monitoring, and functional precision medicine (FPM), which are revolutionizing disease stratification and treatment selection. Additionally, we discuss emerging therapies, including CPX-351, hypomethylating agents (HMAs), targeted inhibitors (e.g., FLT3 and IDH1/2 inhibitors), and immunotherapies, while addressing the challenges of treatment resistance and relapse. The integration of multi-omics technologies and liquid biopsies offers promising avenues for personalized medicine, enabling dynamic monitoring and tailored therapeutic strategies. Finally, we outline future directions, emphasizing the potential of artificial intelligence and collaborative efforts to overcome current limitations and improve patient outcomes. This review underscores the importance of precision medicine in transforming the management of AML-MRC, bridging the gap between bench research and clinical application.