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Section 2 of 6 · Open sections

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From Pattern Recognition to an Integrated Diagnosis

MDS are clonal hematopoietic neoplasms characterized by cytopenia and morphologic dysplasia. Dysplasia is a pattern of abnormal maturation in an assessed lineage, not a diagnosis carried by one cell or one slide. The recommended threshold is 10% dysplasia in a lineage, but sampling and observer variation make a borderline estimate uncertain. An adequate representative marrow and a second review rule are local-policy controls that matter most near the threshold.

Peripheral blood and marrow answer different parts of the question. Blood identifies cytopenias, trends, and circulating abnormalities. Aspirate and trephine biopsy assess marrow cellularity, lineage morphology, blast percentage, and iron-stain findings. Karyotype and a validated molecular panel provide clonal evidence, but a mutation alone does not establish MDS because clonal hematopoiesis and clonal cytopenia of undetermined significance, or CCUS, exist.

Use all evidence streams together, then apply WHO-HAEM5 and International Consensus Classification, or ICC, criteria separately when classification is needed. A final subtype is an integrated hematopathology conclusion rather than an analyzer flag or smear comment. Record adequacy and limitations with morphology so the next reviewer knows how much weight the observation can carry.

Illustrative drawing — this picture was drawn rather than captured.

Workflow diagram connecting blood pattern, marrow evidence, exclusions, and clonal studies to integrated hematopathology review.
Figure 1Four evidence streams used for integrated hematopathology review.

Reusable evidence sequence for suspected MDS.

  1. Recognize the pattern

    Confirm cytopenias, trend, differential, and concerning smear findings.

  2. Test plausible mimics

    Review nutritional, exposure, infectious, autoimmune, and inherited context.

  3. Assess representative marrow

    Document adequacy, blasts, dysplasia, cellularity, and iron stain findings.

  4. Integrate clonality

    Interpret karyotype and validated molecular findings with morphology and criteria.

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Select the evidence streams that should be integrated for suspected MDS.

Choose at least 3 options.

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