Abstract
Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid neoplasms with abnormal maturation and differentiation of one or more cell lineage, resulting in bone marrow failure and a predisposition to leukaemic transformation. Diagnosis is made by evaluation and assimilation of clinical features, peripheral blood, bone marrow biopsy and cytogenetics/FISH investigations. Criteria for the diagnosis and classification have been refined and proposed in a consensus publication from the International MDS Working Group, with immunophenotyping recommended as a co-criterion for diagnosis.<sup>1</sup> This has not been incorporated in WHO diagnostic criteria to date. Utilising our understanding and delineation of normal antigen maturation and expression patterns of myelomonocytic precursors enables the detection of aberrancy in mature and immature populations. There is a large body of literature supporting the routine utility of immunophenotyping in the diagnostic workup of MDS and provocative data in patients treated serially with hypomethylating agents. However, further validation and consensus of antibody panels, definitions of aberrancy and flow scoring systems are required to enable the introduction of immunophenotyping into mainstream diagnostic laboratories. Standardisation efforts are underway within the European LeukemiaNet.
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