MDS And MPD

Question 1

What are myelodysplasic syndromes?

Answer 1

Clonal haematopoietic disorders of myeloid pluripotent stem cells

Question 2

What is the incident of MDS?

Answer 2

4 in 100,000 rising to 70 in 100,000 in the over 70’s

Question 3

How is MDS characterised?

Answer 3

Increasing BM failure with quantitative and qualitative abnormalities of cells in PB

Question 4

Why can you get pancytopenia in MDS?

Answer 4

Hypercellular BM with dysplastic(delayed) maturation of all cells - decrease in all cells

Question 5

True or false: all cases of MDS are spontaneous?

Answer 5

False: can also be secondary or familial

Question 6

What is MDS grouped on?

Answer 6

Cells affected and percentage of blasts

Question 7

Refractory anaemia occurs from what?

Answer 7

Erythroid dysplasia- less than 5% blasts

Question 8

What is RA with ringed sideroblasts?

Answer 8

Same as RA- effects erythroid dysplasia- BUT more than 15% of erythroid precursors are ringed sideroblasts

Question 9

How is RAR diagnosed?

Answer 9

Less than 5% blasts, no dysplasia in granulocytes are megakaryocytes lineages
NO Auer rods

Question 10

What is refractory cytopenia with multilineage dysplasia?

Answer 10

More than 10% of cells present are from 2 or more lineages

Can have ring sideroblasts

Question 11

What is RA with excess blasts? What are the percentages for each type?

Answer 11

Unilineage or multilineage dysplasia

RAEB-1 (5-9%) and RAEB-2(10-19%)

Question 12

What occurs with a del(5q) deletion 5q31

Answer 12

Anaemia

Hypolobilated megakaryocytes

Question 13

Which MDS is high risk?

Answer 13

RAEB

Question 14

What occurs with high risk MDS?

Answer 14

Survival less than 2 years and high risk of AML transformation

Question 15

What are bone marrow features of MDS? Comment on cellularity, erythrocytes, granulocytes and megakaryocytes

Answer 15

Can be hypo cellular or hyper
Multinucleated erythroblasts
Granulocytic precursors often have defective granules
Megakaryocytes are abnormal with micro unclear, binuclear or polynuclear forms

Question 16

What are PB features of MDS?

Answer 16

Red cells are Macrocytic and dimorphic (2 simultaneous rbc populations)
Eeythblasts may be present
Low reticuloycte counts
Granulocytes decrease and show lack of granules
Cytopenias

Question 17

What are the clinical features of MDS?

Answer 17

Symptoms from reduction of one or more cell lines

Question 18

How do you treat low risk MDS?

Answer 18

No treatment

Or growth factors to stimulate cell growth

Question 19

How do you treat high risk MDS?

Answer 19

Hydroxyurea
Low dose ara-c
Intensive chemotherapy
DNA methyl transferase inhibitors

Question 20

Why are DNA methyl transferase inhibitors used to treat high risk MDS?

Answer 20

Because unusual methylated DNA has been identified in patients leading to the disregulation

Question 21

What is the prognosis for high risk MDS and what percentage transitions to AML?

Answer 21

1-5years and 1/3 transition

Question 22

What occurs in MDS-MPN?

Answer 22

Myelodysplasic/ myeloproliferative neoplasms. Hybrid- has dysplastic and proliferative features. Increase in number of circulating cells in one or more lineages

Question 23

What is an example of an MDS-MPN?

Answer 23

Chronic mylomonocytic leukaemia (CMML) (monocytosis and dysplasia in other lineages)
Also juvenile mylomonocytic leukaemia (jMML)

Question 24

What is atypical BCR-abl neg CML classed as?

Answer 24

MDS-MPN

Question 25

How do myeloproliferative diseases occur (MPD)

Answer 25

Evolve from stem cells and involve the proliferation of 1 or more haematopoietic components in the BM

Question 26

What is polycythaemia and what disorder is it associated with?

Answer 26

Increase in Hb, haematocrit,rbc volume and rbc counti

MYELOPROLIFERATIVE DISEASE

Question 27

An increase in neutrophils and platelets is found in what percentage of people with myeloproliferative disease?

Answer 27

50%

Question 28

What are the symptoms of myeloproliferative disease?

Answer 28

Headaches, shortness of breath, blurred vision, night sweats

Question 29

What is hydroxyurea?

Answer 29

A cytotoxic myelosuppressive drug

Question 30

What mutation is responsible for the majority of myeloproliferative disorders?

Answer 30

Jak2
98% of rbcs
50% megakaryocytes
56% ractive fibrosis

Question 31

What is the outcome of myeloproliferative disorders? Can they transition?

Answer 31

10-16 years.
30% transition to myelofibrosis
5% progress to acute leukaemia

Question 32

How do you treat myeloproliferative disease?

Answer 32

Cytotoxic myelosuppressive drugs in. Hydroxyurea

Question 33

What is essential thrombocytopenia ?

Answer 33

Proliferation of megakaryocytes and over production of platelets

Question 34

How is ET diagnosed?

Answer 34

> 450 X 10^9/L
Normal haematocrit
Hypercellular BM

Question 35

What are the symptoms of ET?

Answer 35

Thrombosis and haemorrhage and erythromelagia (burning hands and feet)

Question 36

What is the outcome of ET? Does it tansition?

Answer 36

Stationary for 10-20 years
10-20% transform into myelofibrosis
5% transform to acute leukaemia

Question 37

What causes primary myelofibrosis?

Answer 37

Hyperplasia of normal megakaryocytes.
Megakaryocytes secrete cytokines that stimulate fibroblasts
Eventual BM is replaced with fibrotic material

Question 38

What are the symptoms of primary myelofibrosis?

Answer 38

Fibrosis of BM leads to extra medullary haematopoiesis
Megakaryocytes up
Initial increase in WBCs and plts

Question 39

What are tear drop cells associated with?

Answer 39

Primary myelofibrosis

Question 40

Does primary myelofibrosis transform?

Answer 40

10-20% transform to acute leukaemia