The Diagnostic Spectrum of Myelodysplastic Syndromes and Acute Myeloid Leukemia.

Abstract

The International Consensus Classification (ICC) of myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) expands on the work of prior classifications to refine the diagnostic criteria for MDS and AML and to identify specific genetic disease subtypes. This review summarizes the approach to the diagnosis of MDS and AML from the ICC perspective. For MDS, the significance of detecting mutations in SF3B1, usually associated with ring sideroblasts, as well as the poor prognosis of mutations of TP53 are now included. For AML, new genetic categories are included, and the classification now incorporates additional clinically significant gene mutations by recognizing AML with TP53 mutation and AML with mutations in genes associated with prior therapy or MDS. Finally, the new category of MDS/AML is introduced for adult patients without recurrent de novo genetic abnormalities with 10% to 19% peripheral blood or bone marrow blasts that allow for more treatment flexibility based on clinical findings. While the increase in genetic categories and changes in blast cell requirements can be confusing, a stepwise approach is provided to allow easy use of the classification.