refractory cytopenia with unilineage dysplasia


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  • Clinical

    • 10-20% of MDS
    • median age 65-70
    • anemia refractory to iron, folate and B12 therapy
    • types: refractory anemia (common), refractory neutropenia or thrombocytopenia (very rare)
    • cytopenia cutoffs: 10 Hgb, 1.8E9 neutrophils, 100 plt. Morphology trumps cytopenia
    • usually cytopenic lineage is one with dysplasia, bicytopenia ok, but pancytopenia is MDS-U
    • site: blood and marrow

  • Morphology

    • refractory anemia (most common)
      • blood
        • normochromatic
        • normo to macrocytic
        • variable anisopoikilocytosis
        • lacks blasts (rare at most)
        • other lineages normal (can have mild bicytopenia but not pancytopenia)
      • marrow
        • usually hypercellular with increased erythroid precursors
        • dyserythropoiesis (mild to moderate, > 10%)
          • nuclear budding
          • internuclear bridging
          • karyorrhexis
          • multinuclearity
          • megaloblastoid changes
          • cytoplasmic vacuole
          • PAS positivity
        • ring sideroblasts must be < 15%
        • myeloblasts < 5%
        • other lineages normal to minimal dysplasia (< 10%)
    • refractory neutropenia (rare)
      • 10% dysplastic neutrophils (hypolobation, hypogranulation) in blood or marrow
      • other lineages normal (< 10% dysplasia)
      • ddx: drug, toxic, infection, immune
    • refractory thrombocytopenia
      • 10% dysplastic megakaryocytes, at least 30 evaluated, hypolobation, binucleate, multinucleate, micromegakaryocytes, more evident in sections
      • other lineages normal (< 10% dysplasia)
      • ddx: chronic autoimmune thrombocytopenia

  • Molecular

    • refractory anemia: del 20q, +8, chr 5 and 7 abnormalities
    • if no cytogenetic abnormalities, observe for 6 months before dx MDS

  • Ddx

    • drug, toxin, growth factor therapy, zinc excess
    • infection
    • deficiencies: vitamin, copper
    • congenital
    • idiopathic cytopenia of undetermined significance (lacks dysplasia)
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