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Myelodysplastic syndromes (MDS) comprise a heterogeneous group of myeloid neoplasms defined by peripheral cytopaenia, morphologic dysplasia in one or more haematopoietic lineages, and genetic instability with risk of transformation to acute myeloid leukaemia (AML). A diagnosis of MDS requires the presence of cytopaenia, plus one or more of the following diagnostic features: morphologic evidence of dysplasia in >10% of cells involving at least one haematopoietic lineage, increased blasts, and/or an MDS-defining cytogenetic abnormality. Modern diagnosis of MDS was standardized by the French–American–British (FAB) cooperative group in 1982, which included the first standard descriptions of myelodysplasia [1], and was further refined in the World Health Organization (WHO) classification of 2001, which more specifically quantified dysplasia (Table 8.1) [2].
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