Global spatiotemporal distribution characteristics and regional risk stratification model of acute myeloid leukaemia based on molecular genetics and cytogenetic features

Genetic abnormalities in acute myeloid leukaemia (AML) patients are usually conducted in small or regional studies; there is currently a lack of research on whether genetic abnormalities in each continent have regional specificity. In this study, we collected and jointly analysed studies published between 1995 and 2023 that reported on molecular and cytogenetic abnormalities of AML patients. Our findings reveal that the incidence of molecular genetic abnormalities has been increasing annually, whereas cellular genetic abnormalities show an overall declining trend. We performed cluster analysis and developed a prognostic risk model to uncover that AML patients with molecular genetic abnormalities, or both types of genetic abnormalities, have a relatively lower risk in Europe. In contrast, AML patients in Asia with cytogenetic abnormalities exhibit a comparatively lower risk. We also found that spliceosome co-mutations were dominant among molecular genetic abnormalities, but the synergistic correlation between cytogenetic abnormalities is minimal. Our study offers valuable insights in AML risk levels across different regions, based on prognostic classification and regional risk stratification, and underscores the clinical significance of gene mutations, chromosomal abnormalities, and their co-occurrence, highlighting their role in understanding the disease's pathogenesis and informing treatment strategies.