Myelodysplastic

Syndrome
“brief overview”
 Intro
 MDS comprises a group of malignant stem
cell disorders characterized by ineffective
blood cell production and variable risk of
transformation to acute leukemia.
 MDS subtypes
 Refractory Anemia 21% (RA)
 RARS (refractory anemia w/ ringed
sideroblasts 17%)
 RA w/ excess blasts 37% (RAEB)
 RA w/ excess blasts in transformation
12% (RAEB-T)
 CMML (chronic myelomonoctic leukemia)
13%
TYPE BM Blasts% Peripheral Auer Rods Monocytes > Ringed
blood blasts 1000 /uL Sideroblasts
% >15%

RA <5 <1 No No No

RAS <5 <1 No No Yes

RAEB 5-20 <5 No No +-

CMML <20 <5 No Yes +-

RAEB-T 21-30 >5 +- +- +-

 Prevalence
 ~ 10,000 cases annually in US
 4.1 MDS / 2.1 AML per 100,000
 Risk of Development increases w/ Age
 Unusual <50yrs, unless tx induced
 Median age 65 or greater, w/ male
predominance
 Predisposing Elements
 Heritable – Genetic Disorders including
Down’s, Congential Neutropenias,
Fanconi’s Anemia, Ataxia Telangiectasia,
NF-1….

 Acquired – Mutagen Exposure (alkylators,

Topio II, Radioactive), Hemapoietic cell
xplants, environmental exposures, Aplastic
Anemia, PNH, Polycythemia Vera
 Clinical Presentation
 Non-specific and Varied
 Most asymptomatic and Dx found on labs
 Fatigue, dizziness, weakness, “don’t feel
well”
 Less commonly Infxn, bleeding, bruising
 Fever and wgt loss uncommon
 Infxn is principal cause of death in MDS
(neutropenia and granulocyte dysfunction)
 Also rarely AI manifestations can occur
 Physical Findings
 60% Pale
 26% Petechaie and/or Purpura
 HSPM and lymphadenopathy are uncommon
save for CMML
 Cutaenous Manifestations uncommon…but 2
recognized syndromes can occur in MDS
--> Sweet’s – acute febrile neutrophilic dermatosis
--> Myeloid Sarcoma – “chloroma”
 Laboratory
 Bone Marrow and Blood changes variable,
divided into FAB MDS subtypes.
 Chromosomal Abnormalities are associated
as well.
 Anemia almost always present w/ low retic
response
 Pancytopenia in up to 50% of cases
 <5% have isolated neutropenia or
thrombocytopenia w/o anemia
 Differential Dx
 Megaloblastic Anemia
 Aplastic Anemia
 Myelofibrosis
 Atypical CML
 HIV
 Medications (VPA, Cellcept, Ganciclovir)
 Etoh
 Our Patient…
 Immunoglobin Production variably
affected…Hypogammaglobulinemia 13%,
polyclonal Hypergammaglobulinemia 30%,
Monoclonal Gammopathy reported in 12% of
patients
 Lymphopenia largely 2/2 to reduced CD4+ cells
inversely related to # of transfusions received.
 RARS: <5% BM blasts, >15% ringed
sideroblasts, accounts for ~17% of MDS
Ringed Sideroblasts