Myelodysplastic Syndrome Diagnosis

Initial Evaluation

The initial workup for suspected Myelodysplastic Syndrome (MDS) requires a comprehensive laboratory testing to exclude reversible causes of cytopenias, including a complete blood count with differential, peripheral blood morphology, and biochemical studies, as recommended by the American Society of Hematology 1, 2
A detailed history focusing on prior exposures, medications, lifestyle factors, symptoms, and family history is essential, as suggested by the National Comprehensive Cancer Network 2, 3

A complete blood count with differential, including WBC count, RBC count, hemoglobin, platelet count, RBC indices, and reticulocyte count, is necessary for the diagnosis of MDS, according to the International Working Group for the Diagnosis, Standardization of Response Criteria, Treatment Outcomes, and Reporting Standards for Therapeutic Trials in Acute Myeloid Leukemia 1, 2
Peripheral blood morphology should be evaluated for dysplastic features, including pseudo-Pelger-Huët cells, hypogranulation/degranulation of granulocytes, giant platelets, anisocytosis, poikilocytosis, and basophilic stippling, as recommended by the European LeukemiaNet 1, 4, 5
Biochemical studies to exclude reversible causes of cytopenias, such as nutritional deficiencies, iron studies, hemolysis markers, and renal function, are essential, as suggested by the American Society of Clinical Oncology 1, 2, 4

A bone marrow aspirate and biopsy are required for the diagnosis of MDS, including the evaluation of dysplasia in erythroid, granulocytic, and megakaryocytic lineages, as recommended by the World Health Organization 1, 2, 4, 5
Cytogenetic analysis, including conventional karyotyping and FISH, is necessary for the diagnosis and prognostic assessment of MDS, according to the International Society for Experimental Hematology 1, 2

When the diagnosis is uncertain, observation for 6 months with repeat bone marrow examination may be necessary before confirming the MDS diagnosis, as suggested by the National Institute for Health and Care Excellence 1, 2, 3
Differential diagnoses, such as ICUS, IDUS, and CCUS, should be considered, as recommended by the European Hematology Association 4