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

2. Myelodesplastic Syndrome
by
Haider zaman
Medical Lab Technology

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).

6. Clinical feature
 Anemia Symptoms
 Neutropenia
(increased susceptibility to infection)
 Thrombocytopenia
(bleeding)

7. Sign and Symptoms
Fatigue
Weakness
bleeding
Fever
Bone pain
Shortness of breath
Frequent infections
paleness (pallor) due to anemia

8. Causes of MDS
 Have been heavily exposed to certain chemicals,
such as benzene.
 chemotherapy (Cytoxan,Ifex)
 radiation treatments.
 smoking.

9. FAB classification of MDS

10. FAB Classification of MDS
FAB Subtype Peripheral smear Bone Marrow
Refractory
anaemia (RA)
Anaemia, blasts< 1%,
monocytes <1x109
/L
Blasts< 5%, ringed siderblasts
< 15% of erythroblasts
Refractory
anaemia with
Ringed
sideroblasts
(RARS)
Anaemia, blasts< 1%,
monocytes <1x109
/L
Blasts< 5%, ringed
siderblasts> than 15% of
erythroblasts
Refractory
anaemia with
excess blasts
(RAEB)
Anaemia, blasts>1%,
monocytes <1x109
Blasts ≥5%

11. Refractory anemia (RA)
Refractory anemia with Ringed sideroblast
(RARS)
Refractory anemia with excess blasts
(RAEB)

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.

13. CMML

14. WHO classification of MDS

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

20. Diagnosing of MDS

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

25. Morphological abnormalities in
MDSs

26. PS
Ovalomacrocytes
Elliptocytes
Stomatocytes
Nucleated erythrocytes
Howell-Jolly bodie
Acanthocytes
Teardrops
Basophilic stippling
Erythroid

27. BM
Megaloblastic
Nuclear budding
Ringed sideroblasts
Internuclear bridging
Nuclear fragments
Cytoplasmic vacuolization

28. Myeloid
PS
Pseudo–Pelger-Huet anomaly
Auer rods
 Hypogranulation
Nuclear sticks
Hypersegmentation
Ring-shaped nuclei

29. Bone marrow
 Defective granulation
 Maturation arrest at myelocyte stage
 Increase in monocytoid forms
 Abnormal localization of immature precursors.

30. Megakaryocyte
PS
Giant platelets
Hypogranular or agranular platelets

31. BM
• Micro megakaryocytes
• Hypogranulation
• Multiple small nuclei