Several recurrent balanced translocations and inversions, and their variants, are recognized in the WHO category acute myelogenous leukemia (AML) with recurrent genetic abnormalities. Furthermore, several cytogenetic abnormalities are considered sufficient to establish the WHO diagnosis of AML with myelodysplasia-related features if 20% or more blood or marrow blasts are present.
The inv(16) and related t(16;16) are found in 10% of all cases of de novo AML. In these rearrangements, the core binding factor b (CBFB) gene on 16q22 is fused to the smooth muscle myosin heavy chain gene (MYH11) on 16p13. This cytogenetic group is usually associated with high complete remission rates and a relatively favorable outcome, especially when treated with repetitive cycles of high-dose cytarabine as consolidation therapy.
Clinical Applications
- Acute Myelogenous Leukemia (AML)