Standardizing the initial evaluation for myelodysplastic syndromes

Abstract

The myelodysplastic syndromes (MDS) pose a unique diagnostic challenge for clinicians and pathologists due to the clinicopathologic heterogeneity of the disease and overlapping features with other benign and malignant disorders. Currently, the initial evaluation of a patient with suspected MDS centers around a detailed medical history, review of the peripheral blood and bone marrow by an expert hematopathologist and risk stratification using laboratory results, morphology and cytogenetics. More sophisticated technologies, including multi-color flow cytometry, fluorescence in-situ hybridization (FISH), next-generation sequencing, and others are emerging and promise to offer significant refinements in diagnostic, prognostic and, hopefully, therapeutic information. With the incidence and prevalence of MDS increasing worldwide, it is critical for clinicians to optimize the initial evaluation of a patient with suspected disease, using a standard schema, to facilitate accurate diagnosis, risk stratification and treatment.