Molecular, Cytogenetic, and Immunophenotypic Biomarkers in Acute Myeloid Leukemia: Current Evidence and Future Directions-A Narrative Review.

Abstract

Background: Acute myeloid leukemia (AML) is a highly heterogeneous hematologic malignancy with variable clinical behavior and outcomes. Conventional morphology-based classification is insufficient to capture this complexity, necessitating the use of molecular, cytogenetic, and immunophenotypic biomarkers for accurate diagnosis, risk stratification, and therapeutic guidance.

Objective: This narrative review aims to synthesize current evidence on molecular, cytogenetic, and immunophenotypic biomarkers in AML and to highlight their clinical relevance and emerging future directions.

Methods: A narrative review of the literature was conducted, focusing on key molecular mutations, cytogenetic abnormalities, and immunophenotypic profiles with established or emerging diagnostic, prognostic, and predictive value in AML.

Results: Molecular biomarkers such as FLT3, NPM1, CEBPA, IDH1/2, and TP53 mutations play central roles in AML pathogenesis and prognostication. Cytogenetic abnormalities remain critical for risk classification, with favorable, intermediate, and adverse karyotypic profiles strongly influencing outcomes. Immunophenotypic biomarkers, assessed by multiparameter flow cytometry, are essential for diagnosis and minimal residual disease monitoring, providing powerful prognostic information. Integration of these biomarkers has significantly advanced precision medicine in AML.

Conclusion: Molecular, cytogenetic, and immunophenotypic biomarkers collectively underpin modern AML management. Continued integration of multi-omics data and MRD-guided strategies is expected to further refine personalized therapy and improve clinical outcomes.