Abstract

The presence of specific recurrent karyotype abnormalities is one of the most powerful prognostic predictors in acute myeloid leukemia (AML). AML with inv(16) is categorized by the World Health Organization in the group of core-binding factors (CBF) AML, and it is associated with a favorable prognosis. From the molecular standpoint, the inv(16) leads to the formation of the CBFB-MYH11 fusion gene, which has a role in the disruption of normal hematopoiesis and in the inactivation of tumor suppressor genes needed for neoplastic transformation. Clonal evolution is generally considered a sign of disease progression in AML, but additional chromosomal aberrations seems not to impact on prognosis in CBF AML.

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