Myelodysplasia

Question 1

What is myelodysplasia.

Answer 1

A premalignant disorder.

It is a clonal disorder of bone marrow, which produces morphological and functionally abnormal blood cells.

Question 2

What are the symptoms of myelodysplasia. (3)

Answer 2

Characterized by increasing bone marrow failure with quantitative and qualitative abnormalities of all three myeloid cell lines (red cells, granulocyte/monocytes and platelets):
Features of anaemia.
Bacterial infections.
Bleeding.

Question 3

What is seen on a FBC in a patient with myelodysplasia. (5)

Answer 3

Raised MCV. 
Low Hb. 
Neutrophils.
Platelets. 
(Pancytopenia, with low reticulocyte count.)

Question 4

What is the prognosis for patients with myelodysplasia. (2)

Answer 4

Poor.

After 2-3years, one third transform to AML.

Question 5

What is the median survival after diagnosis with myelodysplasia.

Answer 5

From 6 months to 6 years depending on the disease type.

Question 6

What are the characteristics of myelodysplastic syndromes.

Answer 6

They are a heterogeneous group of disorders that manifest as marrow failure with risk of life-threatening infection and bleeding.

Question 7

What are the causes of myelodysplasia. (3)

Answer 7

Most are primary disorders.

Secondary causes include chemotherapy and radiotherapy.

Question 8

What percentage of cases of myelodysplasia go on to transform into acute leukaemia.

Answer 8

30%.

Question 9

What tends to occur to the bone marrow in myelodysplasia. (2)

Answer 9

Marrow cellularity is usually increased due to ineffective haematopoiesis.
Ring sideroblasts may be seen in the bone marrow.

Question 10

What cellular failure causes myelodysplasia.

Answer 10

It is due to a defect in stem cells.

Question 11

What percentage of myelodysplasia cases go on to transform to AML.

Answer 11

30% of cases.

Question 12

What mutations are associated with myelodysplasia. (5)

Answer 12

TP53. 
E2H2. 
ETV6. 
RUNX1. 
ASXL1.

Question 13

What is the average age of onset for myelodysplastic disorders.

Answer 13

69.

Question 14

What is the overall incidence of myelodysplastic disorders. (2)

Answer 14

4/100,000 in the population.

30/100,000 in the over 70s.

Question 15

What is typically seen on the blood film of a patient with myelodyspasia. (2)

Answer 15

Cytopenias. 
Abnormal looking (dyspastic) blood cells (macrocytic red cells, hypogranular neutrophils with nuclear hyper- or hyposegmentation).

Question 16

What is seen on a bone marrow sample of a patient with myelodysplasia. (2)

Answer 16

Hypercellular bone marrow.

Dysplastic changes in all three cell lines.