High-risk cytogenetic abnormalities impact the cytological and clinical behavior of core binding factor acute myeloid leukemia: a case-control study

Despite its classification as acute myeloid leukemia (AML) with favorable prognosis, core binding factor AML (CBF-AML) with t(8;21)/inv(16) exhibits clinical heterogeneity with varying remission and relapse rates. Newly emerging data suggest a modulatory effect of additional cytogenetic abnormalities on the clinical behavior of CBF-AML, with high-risk anomalies negatively affecting survival.

Aiming at validating these observations, we compare the pathological and clinical characteristics of CBF-AML patients with high-risk additional cytogenetic abnormalities (HR-ACAs) to CBF-AML without HR-ACAs.

The 14-year retrospective review of the laboratory and clinical data of 535 AML patients diagnosed at our institution shows that 37% of CBF-AML patients carry at least one secondary cytogenetic abnormality. HR-ACAs, primarily complex karyotypes, constituted 38% of secondary abnormalities. Interestingly, patients with HR-ACAs more frequently presented with cytopenia, and exhibited more aggressive clinical courses. The detection of HR-ACAs was found to be associated with higher relapse rates (50% vs. 18%;p = 0.006), a greater requirement for stem cell transplantation (89% vs. 27%;p = 0.001), and higher death rates (63% vs. 17%;p = 0.008).

These results indicate that the presence of HR-ACAs impacts the cytological and clinical features of CBF-AML. This entity thus deserves distinct considerations for risk stratification and therapeutic options.