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    Subjects/Medicine/Pancytopenia Workup
    Pancytopenia Workup
    medium
    stethoscope Medicine

    A 32-year-old woman presents with pancytopenia. Bone marrow examination shows hypercellular marrow with dysplastic changes in all three cell lines, and cytogenetics reveals trisomy 8. Which single feature best distinguishes myelodysplastic syndrome (MDS) from aplastic anemia in this clinical context?

    A. Elevated reticulocyte count despite low hemoglobin
    B. Presence of dysplastic changes in bone marrow morphology
    C. Hypercellular marrow on bone marrow biopsy
    D. Absence of splenomegaly on clinical examination

    Explanation

    ## Distinguishing MDS from Aplastic Anemia ### Key Morphologic Discriminator **Key Point:** Dysplastic changes in bone marrow morphology are the hallmark feature that distinguishes MDS from aplastic anemia. Dysplasia refers to abnormal maturation and morphology of hematopoietic cells — including nuclear abnormalities (irregular nuclear membranes, coarse chromatin, abnormal mitotic figures) and cytoplasmic abnormalities (abnormal granulation, Auer rods in blasts). ### Comparative Features | Feature | MDS | Aplastic Anemia | |---------|-----|------------------| | **Bone marrow cellularity** | Hypercellular or normocellular (early MDS) | Hypocellular (<25% cellularity) | | **Dysplastic changes** | **Present** (defining feature) | **Absent** | | **Blast percentage** | 5–19% (by definition) | <5% | | **Cytogenetics** | Abnormal in ~50% (e.g., trisomy 8, del 5q) | Normal | | **Prognosis** | Risk of AML transformation | Depends on severity; may recover | ### Why Dysplasia Is the Key Discriminator **High-Yield:** The WHO classification of MDS is built on the presence of **dysplastic changes** in ≥10% of cells in at least one cell line, combined with cytopenias. Aplastic anemia, by contrast, shows a **hypocellular marrow with normal morphology** of the cells that are present — there is no dysplasia, only reduced production. **Clinical Pearl:** A hypercellular marrow can occur in both MDS (early, or in certain subtypes) and in other conditions like immune-mediated marrow failure; however, the presence of dysplasia narrows the diagnosis to MDS and excludes aplastic anemia. ### Mnemonic: DYSPLASIA = MDS **D**ysplastic changes **Y**ellow marrow (hypocellular) = Aplastic anemia **S**pecific karyotype abnormalities **P**rogenitor maturation defect **L**ow blast count (5–19%) **A**bnormal morphology (not aplastic) **S**econdary AML risk **I**ncreased apoptosis **A**bnormal iron metabolism [cite:Harrison 21e Ch 110]

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