Fast Five Quiz: Myelodysplastic Syndrome Presentation and Diagnosis

Emmanuel C. Besa, MD

Disclosures

May 12, 2021

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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