Myelodesplastic syndrome presentation may easy for Medical student to know about Myelodesplastic syndrome & its classification and Sign and Symptoms,Genetically Abnormalities in MDS,Diagnosing,Morphological abnormalities in MDSs
3. Myelodesplastic Syndrome
Myelodesplastic Syndrome are heterogenous
group of leukemia related condition charecterized
by verious combination of anaemia, neutropenia
and thrombocytopenia usually with a normocelluler
or hypercelluler bone marrow .
MDS are BM stem cell disorder and ineffective
hematopoiesis .
4. Myelodesplastic Syndrome
Patients with MDS can develop
severe anemia and require blood transfusions.
In some cases, the disease worsens and the
patient develops cytopenias (low blood counts)
caused by progressive bone marrow failure. The
outlook in MDS depends on the type and
severity. Many people live normal lifespans with
MDS.
5. Physical examination
Pallor
Peripheral oedema
Evidence of heart failure (severe anaemia).
petechia on the lower extremities or on the buccal
mucosa (if severe thrombocytopenia is present).
Splenomegaly may be present, especially in patients
with chronic myelomonocytic leukemia (CMML).
12. FAB Classification of MDS
FAB Subtype Peripheral smear Bone Marrow
Refractory anaemia with
excess blasts in
transformation (RAEB-T)
Anaemia, blasts ≥5% OR
present Auer rods
Blasts 20-29%
OR present Auer rods
CMML Monocytes>1x109
/L,
granulocytes often
increased, blasts <5%.
Blasts upto 20%,
promonocytes often
increased.
15. Subtype Blood Bone Marrow
Refractory
anaemia (RA,
RN, RT)/RCUD
Single or bicytopenia,
no blasts
Unilineage dysplasia ≥10% of the
cells in one myeloid lineage, < 5%
blasts, <15% ringed sideroblasts
Refractory
anaemia with
ring sideroblasts
(RARS)
Anaemia, no blasts Erythroid dysplasia only, < 5% blasts,
≥15% ringed sideroblasts
Refractory
cytopenia with
multilineage
dysplasia
(RCMD)
Cytopenia,
rare blasts
monocytes
< 1 x 109
/L
Dysplasia in ≥10% of cells in 2 or
more hematopoietic lineages, <15%
ring sideroblasts, < 5% blasts,
RCMD and
ringed
sideroblasts
(RCMD-RS)
Cytopenias
(bicytopenia or
pancytopenia),
rare blasts,
monocytes < 1 x
109
/L
Dysplasia in ≥ 10% of cells in 2 or
more myeloid cell ,< 5% blasts,
≥15% ringed sideroblasts
16. Subtype Blood Bone Marrow
Refractory anaemia
with excess blasts-1
(RAEB-1)
Cytopenias,< 5%
blasts
< 1 x 109
/L monocytes
Unilineage or multilineage
dysplasia,
5-9% blasts
Refractory anaemia
with excess blasts-2
(RAEB-2)
Cytopenias, 5-19%
blasts, Auer rods, < 1
x 109
/L monocytes
Unilineage or multilineage
dysplasia, Auer rods, 10-19%
blasts
MDS, unclassified
(MDS-U)
Cytopenia(s),
rare blasts
Unilineage dysplasia in
granulocytes or
Megakaryocytes, < 5% blasts,
MDS associated with
isolated del(5q)
Anaemia, < 1% blasts,
platelets normal or
increased
Normal to increased
megakaryocytes with
hypolobated nuclei,
< 5% blasts
17. Classification of risk group in
MDS
1. Lower risk MDS
Survival of 3-10 years
Low rate of transformation of AML
RA, RARS
RCUD,RCMD
MDS-u, MDS del(5q)
Ipss low
18. Classification of risk group in
MDS
2. Higher risk MDS
Survival <1.5 year
High Rate of AML Transformation
RAEB
IPSS high
19. Cytogenetic Abnormalities in
MDS
Chromosome deletion or loss(del
5q,monosomy 5,del 7q,monosomal 7,del11q)
Chromosome gain (trisomy 8,trisomy 11)
Chromosome rearrangement
t(3q26),t(1;7)t(11q23)
Complex karyotypes ; three or more
abnormqlities
21. Lab diagnosis
Decrease of one peripheral blood count or
multiple cytopenias.
Anaemia- Microcytic/normocytic/macrocytic.
Reticulocytopenic (corrected reticulocyte count
<1%).
Leukopenia due to a decrease in the absolute
neutrophil count
22. Lab diagnosis
Leukoerythroblastic picture.
An absolute monocytosis (monocytes >1000/μL)
Thrombocytopenia may be present
Thrombocytosis
23. BM Test
• Essential to diagnose MDS.
• The bone marrow biopsy usually is hypercellular
for the age of the patient.
• However, approx 15% of patients have a
hypocellular marrow (cellularity <25%).
24. Cytochemical reactions
Most important and essential- Perl’s stain for
iron.
SBB and MPO- Ensure that all cases with Auer
rods are recognized and classified as RAEB-T
(FAB) or RAEB-2 (WHO).
In CMML- NSE is necessary to identify
monocyte component in bone marrow.
PAS- Erythroblasts
29. Bone marrow
Defective granulation
Maturation arrest at myelocyte stage
Increase in monocytoid forms
Abnormal localization of immature precursors.