Myelodysplastic Syndromes: Laboratory Workup in the Context of New Concepts and Classification Criteria

This review provides a comprehensive update of myelodysplastic syndromes (MDS) and their diagnostic criteria, with emphasis on novel concepts and state-of-the-art laboratory workup, including multiparameter/multicolor flow cytometry, chromosome analysis, and mutation profiling.

Recent advances in genetics and molecular technologies have provided unprecedented insights into the pathogenic mechanisms and genomic landscape of MDS and its precursor lesions. This has resulted in revised diagnostic criteria in the World Health Organization (WHO) classification and proposed new terminology for early lesions such as clonal hematopoiesis of indeterminate potential (CHIP). Against this landscape, a thorough understanding of the advantages and limitations of laboratory tests employed in the evaluation of patients with cytopenia has gained unprecedented importance. Healthcare providers involved in the care of patients with hematologic diseases should be aware of the intricacies of laboratory workup of such patients, particularly in view of the novel concepts and classification criteria of MDS.