Myelodysplastic syndromes (MDSs) are clonal disorders characterized initially by ineffective hematopoiesis and subsequently by the development of acute leukemias. Peripheral blood cytopenias in combination with a hypercellular bone marrow exhibiting dysplastic changes are the hallmark of MDS
|Incidence: Increases with Age |
|Mean age: 68 years ||Male-to-female ratio: 1:1 |
|Overall: ||4.1 per 100,000 |
|Ages 50–59 years: ||0.3 per 100,000 |
|Ages 60–69 years: ||15 per 100,000 |
|Ages 70–79 years: ||49 per 100,000 |
|Ages >80 years: ||89 per 100,000 |
Dunbar CE, Saunthararajah Y. Myelodysplastic syndromes. In: Young NS, ed. Bone Marrow Failure Syndromes. Philadelphia, PA: WB Saunders; 2000:69–98
Greenberg P et al. Blood 1997;89:2079–2088.
Erratum in: Blood 1998;91:1100. Comment in: Blood 1997;90:2843–2846, Blood 2001;98:1985
CBC with differential
Serum liver function tests, electrolytes, serum creatinine
Bone marrow biopsy and aspiration with iron stains, flow cytometry, cytogenetics
HLA typing for patients who are candidates for allogeneic stem cell transplantation
RBC folate, serum B12, serum iron/TIBC/ferritin, serum erythropoietin level (prior to RBC transfusion)
HIV testing if clinically indicated
Thyroid function tests to rule out hypothyroidism
HLA-DR15 typing to assist determination of response to immunosuppressive therapy
Evaluate patients with chronic myelomonocytic leukemia (CMML) for 5q31–33 translocations and/or PDGFRβ gene rearrangements
JAK2 mutation in patients with thrombocytosis
Frequent Chromosomal Aberrations in MDS
|Numerical ||Translocations ||Deletions |
|Cytogenetics ||(%) ||Cytogenetics ||(%) ||Cytogenetics ||(%) |
|+ 8 ||19 ||inv 3 ||7 ||del 5q ||27 |
|−7 ||15 ||t (1;7) ||2 ||del 11q ||7 |
|+21 ||7 ||t (1;3) ||1 ||del 12q ||5 |
|−5 ||7 ||t (3;3) ||1 ||del 20q ||5 |
| || ||t (6;9) ||<1 ||del 7q ||4 |
| || ||t (5;12) ||<1 ||del 13q ||2 |
−, Loss of chromosome; +, additional chromosome; inv, inversion; t, translocation; del, deletion
Classification Systems for MDS
Classification Systems for MDS
|French-American-British Classification of MDS |
|FAB Subtype ||% of Bone Marrow Blasts ||% of Peripheral Blasts |
|Refractory anemia (RA) ||<1 ||<5 |
|Refractory anemia with ringed sideroblasts (RARS) ||<1 ||<5 |
|Refractory anemia with excess blasts (RAEB) ||<5 ||5–20 |
|Refractory anemia with excess blasts in transformation (REAB-t) ||≥5 ||21–30 |
|Chronic myelomonocytic leukemia (CMML) (>1000 monocytes/μL blood) ||<5 ||5–20 |
Bennett JM et al. Proposals for the classification of the myelodysplastic syndromes. Br J Haematol 1982;51:189–199
|2008 World Health Organization Classifi cation of MDS |
|Subtype ||Blood ||Bone Marrow |
|Refractory cytopenia with unilineage dysplasia (RCUD)✫ ||Single or bicytopenia ||Dysplasia in ≥10% of 1 cell line, <5% blasts |
|Refractory anemia with ring sideroblasts (RARS) ||Anemia, no blasts ||≥15% of erythroid precursors w/ring sideroblasts, erythroid dysplasia only, <5% blasts |
|Refractory cytopenia with multilineage dysplasia (RCMD) ||Cytopenias, monocytes <1000/μL ||Dysplasia in ≥10% of cells in ≥2 hematopoietic lineages, ±15% ring sideroblasts, <5% blasts |
|Refractory anemia with excess blasts-1 (RAEB-1) ||Cytopenias, ≤2–4% blasts, monocytes <1000/μL ||Unilineage or multilineage dysplasia, no Auer ...|
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