Core-binding factor acute myeloid leukemia: an update of pathogenesis, diagnosis and novel targeted therapies

Core-binding factor acute myeloid leukemia (CBF-AML) is caused by specific non-random chromosome translocation or inversion, and has been categorized as an independent cytogenetic type of acute myeloid leukemia (AML). Clinically, CBF-AML is caused by t(8; 21)(q22; q22), and inv(16)(p13.1; q22) or t(16; 16)(p13.1; q232), and is generally divided into t(8; 21)AML and inv(16)AML respectively. With conventional chemotherapy, CBF-AML is generally associated with a relatively favorable prognosis. Nevertheless, cumulative relapse rate may be up to 40% in adult patients with CBF-AML, which is the primary reason of treatment failure, and the major clinical problem to be resolved. As revealed by considerable experimental and clinical evidence, CBF-AML is quite heterogeneous in terms of clinical phenotypes, molecular cytogenetics and epigenetics. Therefore, it is of great clinical relevance to comprehensively analyze the types and frequencies of cooperating molecular cytogenetic aberrations in order to refine diagnostic stratification, to improve prognosis prediction, to select genetic-based novel targeted therapies, and to further improve the prognosis and reduce the recurrence rate of patients with CBF-AML. The current review will highlight recent experimental and clinical research findings in this particular type of de novo AML. Key words: Core-binding factor; Leukemia, myeloid, acute; Pathogenesis; Diagnosis; Targeted therapy