High-risk cytogenetic abnormalities impact the cytological and clinical behavior of core binding factor acute myeloid
Hani El Achkar1, Ali Bazarbachi2, Zaher Chakhachiro1
1Department of Pathology and Laboratory Medicine, Cytogenetics Division, American University of Beirut Medical Center, P.O.Box 11-0236 , Riad El-Solh, Beirut, 1107 2020, Lebanon.
Background:
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.
Methods:
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.
Results:
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).
Conclusion:
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.
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