Myelodysplasia

Question 1

outline the typical presentation of myelodysplasia?

Answer 1

Ringed sideroblasts

NO HEPATOSPLENOMEGALY OR LYMPHADENOPATHY,

macrocytic anaemia

BM failure

Question 2

define myelodysplasia?

Answer 2

A series of haematological conditions that manifest as marrow failure due to haematopoeitic stem cell damage characterised by chronic pancytopaenia (anaemia, neutropaenia, thrombocytopaenia) with low reticulocyte count, and abnormal cellular maturation.

Question 3

what are the 5 subgroups of myelodysplasia?

Answer 3

Refractory anaemia(RA) - less RBCs

RA with ringed sideroblasts (RARS) - Sideroblasts are nucleated erythroblasts with granules of iron accumulated in the mitochondria

RA with excess blasts (RAEB)

Chronic myelomonocytic leukaemia (CMML)

RAEB in transformation (RAEB-t)

Question 4

what are sideroblasts?

Answer 4

Sideroblasts are nucleated erythroblasts with granules of iron accumulated in the mitochondria

Question 5

what are the 5 subgroups of myelodysplasia?

Answer 5

Refractory anaemia (RA) - less RBCs

RA with ringed sideroblasts (RARS)

• Sideroblasts are nucleated erythroblasts with granules of iron accumulated in the mitochondria

RA with excess blasts (RAEB)

Chronic myelomonocytic leukaemia (CMML)

RAEB in transformation (RAEB-t)

Question 6

what are the risk factors for myelodysplasia?

Answer 6

chemotherpay

radiotherpy

Down’s syndrome

congential neutropenia

Question 7

outline the aetiology of myelodysplasia?

Answer 7

may be PRIMARY (intrinsic bone marrow problem)

may arise in patients who have received chemotherapy or radiotherapy for previous malignancies

Patients may have chromosomal abnormalities

MDS is diagnosed when bone marrow demonstrates significant dysplasia, clonal cytogenetic abnormality, quantitative changes in at least one of the blood cell lines, and blasts <20%. Patients with blasts ≥20% are considered to have AML.

Question 8

summarise the epidemiology of myelodysplasia?

Answer 8

Mean age of diagnosis: 65-75 yrs

More common in MALES

2 x as common as AML

Question 9

what are the presenting symptoms of myelodysplasia?

Answer 9

May be ASYMPTOMATIC and diagnosed on routine blood counts

Symptoms of Bone Marrow Failure

• Anaemia (fatigue, dizziness, exercise intolerance)
• Neutropaenia (recurrent infections)
• Thrombocytopaenia (easy bruising, epistaxis)

Check risk factors:

• Occupational exposure to toxic chemicals
• Prior chemotherapy or radiotherapy

Question 10

what are the signs of myelodysplasia

Answer 10

Anaemia (pallor, cardiac flow murmur)

Neutropaenia (infections)

Thrombocytopaenia (purpura or ecchymoses)

Spleen/liver/lymph N NOT enlarged (except in CMML)

Question 11

What are the investigations for myelodyslasia

Answer 11

Bloods

• FBC – pancytopaenia
• Reticulocyte count
• Check for folate and vitamin B12 to rule out other causes of deficiency
• Iron studies should be normal – rules out other differentials

Blood Film

• Normocytic or macrocytic red cells
• Ring sideroblasts may be seen in the marrow

Bone marrow core biopsy – to assess whether CML has transformed to AML

Bone marrow cytogenic analysis – to check if there are any chromosomal abnormalities

HLA typing – useful for stem cell transplantation

Question 12

Describe bloods in myelodysplasia?

Answer 12

• FBC – pancytopaenia
• Reticulocyte count
• Check for folate and vitamin B12 to rule out other causes of deficiency
• Iron studies should be normal – rules out other differentials

Question 13

Describe blood film in myelodysplasia?

Answer 13

Normocytic or macrocytic red cells

Ring sideroblasts may be seen in the marrow