These conditions involve blood cell dysplasias, which result from reductions in blood cell counts or abnormal production.
Condition
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Cause
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Lab Findings
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Diagnostic Tests
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Treatment
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Peripheral Blood
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Bone Marrow
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Myelodysplastic Syndromes (general)
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Usually, translocations
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Dysplasia of myeloid cell lines
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<20% blasts
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- Cytogenetic testing
- Molecular testing
- Immunological marker (CD marker) testing
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Dyserythropoiesis
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- Oval macrocytes
- Hypo/micro picture
- Dimorphic population
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- Erythroid hyperplasiaAbnormal RBC precursors
- Multiple nuclei
- Abnormal nuclear shapes (nuclear budding, nuclear bridging)
- Uneven staining
- Ringed sideroblasts
- Basophilic stippling
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|
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Refractory Anemia
- Form of dyserythropoiesis
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|
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- Bone marrow erythrodysplasia
- Ringed sideroblasts in >15% of nucleated erythroid precursors
- Iron mitochondria surrounding >1/3 of nucleus
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Dysmyelopoiesis
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Neutrophils (>90% showing dysplasia)
- Uneven cytoplasm staining and basophilia
- Abnormal granulation (hypo-, hyper-, or agranulation)
- Abnormal nuclear segmentation (hypo, rarely hyper)
- Possibly nuclear rings (doughnut-shaped)
- Nuclear asynchrony
- Mature, clumped chromatin but immature shape
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|
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Dysmegakaryocytopoiesis
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- Thrombocytopenia (60%)
- Giant platelets
- Hypo- or agranulation
- Micromegakaryocytes with fused granules
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- Megakaryocytes with abnormal morphology
- May have small, separated nuclei
- Micromegakaryocytes and micromegakaryoblasts
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|
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Chronic myelomonocytic leukemia (CMML)
|
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- Monocytosis >1.0x109/L
- ↑ leukocytes
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- <20% blasts
- Dysplasia in 1+ myeloid cell lines
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|
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Differential Diagnosis
Many other conditions can have findings similar to myelodysplastic syndromes.
- Vitamin B12 or folate deficiencies
- Heavy metal exposure
- Fanconi anemia, congenital dyserythropoietic anemia
- Parvovirus B19
- Chemotherapy agents
- Paroxysmal cold hemoglobinuria
- HIV