Myelodysplastic Syndromes (MDS)
Myelodysplastic Syndromes (MDS)
Updated: 05/31/2018
© Jun Wang, MD, PhD
General features
- Clonal disorders of marrow stem cells
- Ineffective or disorderly hematopoiesis
- Usually older patients
- Need to be ruled out in any adults with unexplained cytopenias or monocytosis
- Diagnostic approaches include CBC, bone marrow biopsy/aspirate, cytogenetics analysis, molecular studies including FISH, single nucleotide polymorphism arrays, DNA sequencing
Clinical presentations
- Associated with lineage affected
- Anemia
- Defected platelet aggregation
Key risk factors
- Cytotoxic chemotherapy
- Radiation
- Viral infection
- Genotoxic chemicals, such as benzene
Key Laboratory findings
- Increased cellularity in marrow with decreased circulating blood cells
- Dysplasia in one or more myeloid cell lines
- < 20% blasts
Key morphological features
- Irregular shape and size of red blood cells, either normochromic or hypochromic
- Nuclear budding erythrocytic precursors
- Ringed sideroblast: Red cell precursors with small iron granule deposit surrounding nuclei
- Micromegakaryocytes or hypolobulated megakaryocytes
- Pseudo Pelger-Huet cells: Neutrophils withbilobed nuclei
Genetic abnormalities
- Balanced chromosomal abnormality with fusion of oncogenes
- Complex karyotypes
- Normal karyotype may present
Current classification
- Refractory anemia (RA): <5% blasts, <15% ringed sideroblasts, unilineage dysplasia >10% in one myeloid lineage
- RA with Ringed Sideroblasts (RARS): 15% or more sideroblasts, less than 5% blasts, erythroid dysplasia only
- Refractory cytopenia with multilineage dysplasia (RCMD): cytopenia, <5% blasts, dysplasia in >10% of cells in two or more lineages, no Auer rods
- RA with Excess Blasts (RAEB): Unilineage or multilineage dysplasia with 5-9% blasts, no Auer rods in Type 1; or 10-19% blasts, Auer rods may be present in Type 2
- MDS with isolated 5q- syndrome: anemia, <5% blasts, no Auer rods, hypolobulated megakaryocytes
- Unclassified: cytopenia(s), dysplasia in <10% of cells in one or more myeloid cell lines, accompanied by cytogenetics abnormalities with presumptive evidence of MDS, <5% blasts
- Therapy related MDS
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