Diagnostic updates and research advances in AML-MR: Integrating molecular genetics and immune mechanisms

Acute myeloid leukaemia, myelodysplasia-related (AML-MR) is a distinct subtype of acute myeloid leukemia defined in the 2022 WHO classification. It is characterized by specific molecular genetic abnormalities and immunological features. In recent years, with the continuous refinement of AML classification criteria and the incorporation of more precise molecular biomarkers into the diagnostic system, the accuracy of diagnosis and the precision of risk stratification have been significantly improved, laying the foundation for personalized treatment. Studies have shown that the development of AML-MR is closely associated with clonal hematopoietic abnormalities and dysregulation of the bone marrow immune microenvironment. This immunosuppressive state not only promotes leukemic progression but also affects therapeutic responses. In terms of treatment, emerging immunotherapies have shown promising advances in AML-MR, offering new directions for improving the prognosis of high-risk patients. This review systematically summarizes recent progress in the classification criteria, molecular genetic mechanisms, immune microenvironment characteristics, and targeted therapeutic strategies of AML-MR, aiming to provide insights for optimizing clinical management and guiding future research.