Myelodysplastic syndromes

Question 1

What are myelodysplastic syndromes?

Answer 1

This is a group of neoplastic conditions of bone marrow in which there is dysplastic haemopoiesis, resulting in marked morphological abnormalities in blood cells, and a tendency to progress to AML. As such, they are pre-leukaemic disorders. Their hallmark is the presence of a cellular bone marrow with cytopenias in the peripheral blood.

Question 2

What is the basic pathogenic process involved in myelodysplasticsyndromes?

Answer 2

The pathogenesis appears to involve an abnormal clone arising from a mutated stem cell. The combination of the high marrow cellularity and blood cytopenias may be explained by development of a malignant clone with predisposition to apoptosis.

In some cases, the myelodysplastic syndrome is secondary to stem cell damage from prior treatment of unrelated malignancies with chemotherapy or radiotherapy and is therefore iatrogenic, t(MDS).

In english: bone marrow is often hypercellular +/- excess blasts. Cells not released into blood because they fail the quality control mechanisms.

Question 3

Which age group do myelodysplastic syndromes affect most?

Answer 3

Elderly

Question 4

How do myelodysplastic syndromes tend to present?

Answer 4

Pancytopenic features

• Anaemia - 80% of cases
• Infection
• Bleeding

Consider in patients with one or more cytopenias: anaemia, thrombocytopenia, neutropenia

Question 5

What investigations might you do in somoene with suspected myelofibrosis?

Answer 5

• Bloods - FBC, U+Es, LFTs, Blood Film, Coagulation screen, Urate, LDH
• Bone marrow Aspirate

Question 6

What might you find on investigation of FBC in myelodysplastic syndromes?

Answer 6

Evidence bone marrow failure

• Anaemia
• Neutropenia
• Monocytosis
• Thrombocytopenia

Question 7

What might you find on bone marrow biopsy in someone with myelodysplastic syndromes?

Answer 7

• Increased cellularity despite pancytopenia
• Dyserythropoiesis
• Granulocyte precursors and megakaryocytes - abnormal morphology
• Ring sideroblasts

Question 8

What can myelodysplastic syndromes progress to?

Answer 8

AML

Question 9

Typical management myelodysplastic syndromes

Answer 9

• Regular blood transfusions for chronic anaemia
• Platelet transfusions
• Antimicrobials for infection
• High risk may respond to chemo