Molecular testing in myelodysplastic syndromes

Myelodysplastic syndromes (MDSs) are clonal hematopoietic disorders that result in cytopenias due to ineffective hematopoiesis and risk of progression to acute myeloid leukemia. Diagnostic and prognostic workup for MDS has traditionally relied on clinical, morphologic, and cytogenetic findings. However, sequencing panels for gene mutations have rapidly become an additional, essential tool in the evaluation of MDS patients. From a diagnostic standpoint, mutation status is now codified in WHO-defined diagnostic criteria for some MDS and MDS/myeloproliferative neoplasm categories, it can influence which diagnosis is favored within the differential diagnoses being considered, and it can help to determine likelihood of an overt myeloid neoplasm in difficult and borderline cases. The prognostic significance of gene mutations in MDS overlaps with that of existing prognostication algorithms, but independent prognostic significance has been demonstrated for a limited set of gene mutations.