MDS with isolated del 5q


Expand All | Collapse All

  • Clinical

    • anemia, usually macrocytic
    • thrombocytosis or nml plt
    • blast <5% (marrow), <1% (blood)
    • 5q- syndrome (subset of cases): macrocytic anemia, nml-elevated plt, erythroid hypoplasia in marrow
    • good prognosis
      • < 10% develop AML
      • can be treated with lenalidomide

  • Morphology

    • blood
      • severe macrocytic anemia
      • < 1% blast
    • marrow
      • normo to hypercellular
      • erythroid hypoplasia
      • megakaryocyte: increased number, hypolobated/nonlobated nuclei
      • other dysplasia uncommon
      • < 5% blast

  • Molecular

    • del 5q being the only cytogenetic abnormality
    • can have Y loss
    • can have JAK V617F
    		•