Molecular Pathology of Acute Myeloid Leukemias

Acute myeloid leukemia (AML) is a family of hematopoietic neoplasms characterized by proliferation of myeloid-lineage blast cells in the bone marrow, peripheral blood, and/or extramedullary sites. Appropriate classification and subclassification of these neoplasms is necessary to ensure appropriate therapy. This classification is increasingly based upon the underlying genetic abnormalities of these diseases, and evaluation for these abnormalities has become standard of care in the diagnosis and treatment of acute leukemias. The current WHO classification incorporates a combination of clinical features, morphologic features, immunophenotype, karyotype, and molecular testing to precisely subclassify these diseases [1]. This is considered a work in progress, and, as more abnormalities are identified, they will be incorporated into novel diagnostic and prognostic subgroups. In addition, at least some of these mutations are being incorporated into minimal residual disease testing and some are targeted for directed therapy.