The diagnosis of MDS may be suspected based on the presence of cytopenia, but it is confirmed by a bone marrow aspiration and biopsy. The World Health Organization criteria cite these factors are required for a diagnosis of MDS: persistent (defined as 6 months or longer) cytopenia(s), ≥ 10% dysplasia in at least one cell lineage, and MDS-associated clonal cytogenetic or molecular marker. A manual count of bone marrow blasts is necessary for risk assessment. When more than 20% of the cells in bone marrow or blood are blasts, this is classified as AML.
Genetic biomarker testing can support a diagnosis of MDS. Several genetic mutations have been tied to MDS, but only the most commonly mutated gene in MDS — SF3B1 — is considered a diagnostic criterion.
Learn more about the workup of MDS.
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Cite this: Emmanuel C. Besa. Fast Five Quiz: Myelodysplastic Syndrome Presentation and Diagnosis - Medscape - May 12, 2021.