How to diagnose myelodysplastic syndromes

Peripheral blood

Blood count, mandatory

  • Leukocyte count often <4000/μL
  • Platelet count often <100 000/μL
  • Hemoglobin often <12 g/dL
  • Reticulocyte count often low

Differential blood count, manual, mandatory

  • Dysplasia? percentage of blast cells?

LDH U/L (above the norm is associated with poorer prognosis)

Ferritin

  • If values >1000 μg/L, iron chelation therapy may be indicated

Erythropoietin concentration

  • If values <500 U/L, erythropoietin therapy may be indicated (off label)

HLA typing in younger patients

  • Allogenic transplantation may be indicated

Bone marrow

  • Cytology with myeloperoxidase stain, esterase stain, and staining for iron (dysplasia? percentage of blast cells?), mandatory
  • Cytogenetic testing, may include FISH (chromosomal abnormalities?), mandatory
  • Histological analysis of a bone marrow sample (cellularity? fibrosis?), mandatory
  • Immunophenotyping, recommended

Peripheral blood or bone marrow

Mutation analysis, suggested

  • bcr-abl, pdgfr-α/β, (distinguish between CMML/CML/aCML)
  • tet2, runx1, asxl1, sf3b1, srsf2, tp53, u2af1, dnmt3a, zrsr2, ezh2, nras, kras (if needed to confirm diagnosis, prognosis)
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