Transcript Myelodysplastic Syndrome

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
blood blasts
%
Auer Rods
Monocytes >
1000 /uL
Ringed
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
+-
>5
+-
+-
+-
RAEB-T 21-30
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