Myelodysplastic Syndrome

Myelodysplastic Syndrome
 Group of clonal disorders of hematopoietic
stem cells characterized by cellular
dysplasia and ineffective hematopoiesis
 Results in cytopenias and dysmyelopoiesis
 Variable risk of transformation to acute
leukemia
 Pathophysiology
 Primary MDS or Secondary MDS
 A clonal mutation in hematopoietic stem cells
 Bone marrow failure due to ineffective
hematopoiesis
 Increased cytokines (TNF-a) inhibit
hematopoiesis
 Increased apoptosis
 Results in futile cycling of blood cells with
impaired production of mature blood cells
 Prevalence
 Mainly a disorder of older patients, rarely
presents before age 50
 Median age is 65 years
 Male predominance
 Clinical Presentation
Non specific signs and symptoms of various
cytopenias
• Fatigue, SOB, exercise intolerance, pallor,
tachycardia
• Mucosal bleeding, petechiae, ecchymoses

• Infection, fever

B-symptoms are uncommon

Splenomegaly and lymphadenopathy are rare
 Diagnosis
 Anemia uniformly present with decreased
reticulocytosis
 >50% present with pancytopenia
 50% present with associated neutropenia
 <5% isolated neutropenia or thrombocytopenia
 Cytopenia with normal or hypercellular bone
marrow with single or multi-lineage dysplasia
 Morphology

 Peripheral changes
include oval
macrocytic red cells,
hypogranular
granulocytes with the
pseudo-Pelger–Huët
anomaly, and giant
platelets.
Morphology
 Megaloblastic red-cell
precursors with
multiple nuclei or
asynchronous
maturation of the
nucleus and the
cytoplasm
Morphology
 Ringed sideroblasts,
erythroid precursors
with iron-laden
mitochondria
 Classification
Disease Peripheral Blood Bone Marrow

Refractory Anemia (RA) Anemia Erythroid dysplasia only

No or rare blasts < 5% blasts
< 15% ringed sideroblasts
Refractory Anemia with Anemia Erythroid dysplasia only
Ringed Sideroblasts No blasts >15% ringed sideroblasts
(RARS) < 5% blasts
Refractory cytopenia with Cytopenia Dysplasia in 10% of cells in
multilineage dysplasia No or rare blasts 2 or more myeloid cell lines
(RCMD) < 5% blasts in marrow
No Auer rods
< 15% ringed sideroblasts
< 1 × 109/L monocytes
 Classification Cont.
Disease Peripheral Blood Bone Marrow

Refractory cytopenia with Cytopenia Dysplasia in 10% of cells in

multilineage dysplasia No or rare blasts 2 or more myeloid cell lines
and ringed sideroblasts No Auer rods < 5% blasts in marrow
> 15% ringed sideroblasts
(RCMD-RS) < 1 × 109/L monocytes

Refractory anemia with Cytopenias Unilineage or multilineage

excess blasts-1 (RAEB-1) < 5% blasts dysplasia
No Auer rods 5% to 9% blasts
< 1 × 109/L monocytes No Auer rods

Refractory anemia with Cytopenias Unilineage or multilineage

excess blasts-2 (RAEB-2) 5% to 19% blasts dysplasia
Auer rods ± 10% to 19% blasts
< 1 × 109/L monocytes ±Auer rods
 Classification cont.
Disease Peripheral Blood Bone Marrow

Myelodysplastic Cytopenias Unilineage dysplasia in

syndrome, unclassified No or rare blasts granulocytes or
(MDS-U) megakaryocytes
No Auer rods
< 5% blasts
No Auer rods
MDS associated with Anemia Normal to increased
isolated del(5q) < 5% blasts megakaryocytes with
hypolobated nuclei
Platelets normal or
increased < 5% blasts
No Auer rods
Isolated del(5q)