Myeloid Neoplasms: Molecular diagnostics

Among primary bone marrow neoplasms, myeloid malignancies comprising acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and myeloproliferative neoplasms (MPNs) constitute the vast majority of cases. AML is stratified by cytogenetic findings into unfavorable, intermediate, and favorable outcome groups, with the increased use of molecular testing to identify additional therapy response predictors. MDS, comprising an interrelated group of disorders all with ineffective hematopoiesis, are similarly stratified by molecular and cytogenetic findings. MPNs show a wide range of defining molecular aberrations, many of which involve targetable growth factor pathways. Therefore, full molecular and genomic profiling is becoming the diagnostic standard in diagnosis, risk stratification, and therapy selection for all myeloid neoplasms.