Diagnostic Approach to Myelodysplastic Syndrome (MDS) with Multilineage Dysplasia

Diagnostic Interpretation

The American Society of Hematology indicates that the presence of hypochromic microcytes, anisopoikilocytosis, polychromasia, and normoblasts suggests dysplastic erythropoiesis 1, 3
The presence of nucleated RBCs in peripheral blood is a sign of dysplastic erythropoiesis in MDS according to the American Society of Hematology 3
Thrombocyte abnormalities, such as low platelet count with giant platelets, suggest dysplastic megakaryopoiesis 1, 2

The American Society of Hematology recommends that all newly diagnosed patients must be evaluated at a center with specific hematologic competence for comprehensive diagnostic approach 1, 2
Bone marrow aspirate and biopsy are essential to evaluate dysplasia in all three cell lines, enumerate blasts, assess cellularity, and identify ring sideroblasts 1, 2
Cytogenetic analysis (G-banding) is mandatory to detect acquired clonal chromosomal abnormalities that confirm diagnosis and provide prognostic assessment 1, 2

Chronic myeloid leukemia (CML) would show basophilia, immature granulocytes, and requires BCR-ABL testing 6
Myeloproliferative neoplasms, such as polycythemia vera, show different bone marrow morphology with giant megakaryocytes and pleomorphism 7

The American Society of Hematology recommends risk stratification using cytogenetics and blast percentage to determine prognosis 1, 2
Repeat bone marrow examination may be needed weeks to months apart if initial findings are equivocal 1, 2
Observation period is recommended if only unilineage dysplasia, no blast increase, <15% ring sideroblasts, and no recurrent cytogenetic abnormalities, observe for 6 months before definitive MDS diagnosis 1, 2