Role of metabolomic changes in diagnosis and assessment of treatment response in acute myeloid leukemia

Acute Myeloid Leukemia (AML) is an aggressive cancer characterized by the rapid proliferation of abnormal myeloid cells. Despite advancements in treatment, patient outcomes remain variable, underscoring the need for more accurate diagnostic and prognostic tools. Metabolomics has gained attention for its potential to offer new insights into disease mechanisms and progression. This study aimed to compare metabolomic profiles between AML patients and normal controls, determine the diagnostic accuracy of different metabolites in AML patients, assess the diagnostic accuracy of specific metabolites in AML patients, and evaluate the prognostic significance of these metabolites at the first bone marrow follow-up. The cross-sectional study included 56 AML patients (sampled before and after chemotherapy) and 56 age- and sex-matched healthy controls. Whole blood and serum samples were collected from all participants after obtaining informed consent. Metabolomic analysis was performed using a Bruker 600 MHz NMR spectrometer. Results revealed significant metabolic alterations between AML patients and healthy controls, as well as in remission and non-remission groups. Key disrupted pathways included lipid metabolism, amino acid metabolism, and glycolysis (p < 0.05). Metabolite panels such as acetate, creatine, and lactate demonstrated strong diagnostic potential (AUC = 0.98), while citrate, glutamate, and choline panels (AUC = 0.89) showed prognostic utility in distinguishing patients from controls and remission from non-remission groups, respectively (p < 0.05). The study highlights significant metabolomic alterations in AML patients, marked by disruptions in lipid, energy, and amino acid metabolism, elevated glucose levels, and enhanced diagnostic and prognostic capabilities. These findings support the development of personalized diagnostic and therapeutic strategies.