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INTRODUCTION

Epidemiology

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Epidemiology
Incidence: Increases with Age
Mean age: 71 years Male-to-female ratio: 1.5:1
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 (editor). Bone Marrow Failure Syndromes. Philadelphia, PA: WB Saunders; 2000:69–98

Greenberg P et al. Blood 2012;120:2454–2465

Work-up

CBC with differential, reticulocyte count

Serum liver function tests, electrolytes, serum creatinine, lactate dehydrogenase

Bone marrow biopsy and aspiration with iron stains, flow cytometry, cytogenetics, molecular studies

HLA typing for patients who are candidates for allogeneic 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

Evaluation of patients with chronic myelomonocytic leukemia (CMML) for PDGFRβ gene rearrangements at 5q32

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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

  • Clonal cytogenetic abnormalities: 30–79%

  • Deletions are more frequent than translocations

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Commonly mutated genes in MDS
Mutated Gene Frequency (%)
TET2 20–30
SF3B1 20–30
ASXL1 15–25
SRSF2 10–15
DNMT3A 10–15
RUNX1 10–15
TP53 5–10
EZH2 5–10
IDH1/IDH2 <5
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Peripheral and bone marrow findings and cytogenetics of MDS
Name Dysplastic Lineages Cytopenias Ring Sideroblasts as % of Marrow Erythroid Elements BM and PB Blasts Cytogenetics by Conventional Karyotype Analysis
MDS with single-lineage dysplasia (MDS-SLD) 1 1 or 2 <15%/<5 BM <5%, PB <1%, no Auer rods Any, unless fulfills all criteria for MDS with isolated del(5q)
MDS with multilineage dysplasia (MDS-MLD) 2 or 3 1–3 <15%/<5 BM <5%, PB <1%, no Auer rods Any, unless fulfills all criteria for MDS with isolated del(5q)
MDS with ring sideroblasts (MDS-RS)          
MDS-RS with single lineage dysplasia (MDS-RS-SLD) 1 1 or 2 ≥15%/≥5 BM <5%, PB <1%, no Auer rods Any, unless fulfills all criteria for MDS with isolated del(5q)
MDS-RS with multilineage dysplasia (MDS-RS-MLD) 2 or 3 1–3 ≥15%/≥5 BM <5%, PB <1%, no Auer rods Any, unless fulfills all criteria for MDS with isolated del(5q)
MDS with isolated del(5q) 1–3 1–2 None or any BM <5%, PB <1%, no Auer rods del(5q) alone or with 1 additional abnormality except –7 or del(7q)
MDS with excess blasts (MDS-EB)          
MDS-EB-1 0–3 1–3 None or any BM 5%–9% ...

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