Myelodysplastic Syndrome (MDS) Differential Diagnoses

Updated: Jun 23, 2022
  • Author: Emmanuel C Besa, MD; Chief Editor: Sara J Grethlein, MD, MBA, FACP  more...
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Diagnostic Considerations

Myelodysplastic syndrome (MDS) is typically diagnosed by finding some combination of dysplastic cell morphology, increased marrow blasts, and a karyotypic abnormality. Other causes of cytopenias must be excluded. Common etiologies of cytopenias or morphologic abnormalities that may mimic MDS include the following [8] :

  • Medication (eg, methotrexate)
  • Deficiencies of cobalamin, folate, or copper
  • Alcohol abuse
  • HIV infection
  • Immune-mediated cytopenias (eg, aplastic anemia, large granular lymphocyte leukemia)
  • Congenital syndromes (eg, Fanconi anemia, X-linked sideroblastic anemia)
  • Idiopathic cytopenia of undetermined significance (ICUS)
  • Idiopathic dysplasia of undetermined significance (IDUS)

Differential Diagnoses