childhood MDS


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  • Clinical

    • anemia
    • neutropenia and thrombocytopenia more common than in adults
    • can be de novo or secondary (therapy, marrow failure)
    • MDS associated with DS is considered separate entity
    • tx: stem cell transplant

  • Types

    • Refractory cytopenia of childhood (50% of cases, encompasses RCMD)
      • clinical
        • fever, bleeding, infection, asymptomatic in 20%
        • anemia in 50%, usually macrocytic
        • thrombocytopenia and neutropenia also common
      • required criteria
        • dysplasia in 2 lineages or > 10% in one lineages
        • erythroid dysplasia or megaloblastoid: lobation, multinucleation, nuclear bridges
        • erythroid clusters (20+ cells) with maturation arrest and mitoses in biopsy
        • granulocytic dysplasia (blood or marrow): pseudo Pelger Huet, hypogranular, giant bands
        • megakaryocytic dysplasia: micromegakaryocytes (CD61 on bx required) +/- multinucleation
        • < 2% blood blast, < 5% marrow blast
        • lack ring sideroblasts
      • other morphology
        • RBC anisopoik, macrocytosis
        • plt anisocytosis, occasional giant plt
        • decreased megakaryocytes
        • hypocellular marrow in 75%, otherwise normo to hypercellular with increased erythroids
    • RAEB: 2-19% blood blasts or 5-19% marrow blasts
    • rare types: RARS, MDS with isolated del 5q

  • Molecular

    • monosomy 7: most common, worse prognosis
    • trisomy 8: better prognosis

  • Ddx

    • MDS associated with DS
    • AML (check characteristic cytogenetics)
    • acquired aplastic anemia (increased fat, lacks erythroid islands or dysplasia)
    • congenital marrow disorders such as Fanconi (check family hx, genetics)
    • PNH
    • infection
    • B12, folate, vitamin E deficiency
    • others: mevalonate kinase deficiency, FAS deficiency, rheumatic disease, Pearson syndrome
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