Chronic myeloid leukaemia

Question 1

What is IT?

Answer 1

Uncontrolled clonal prolifération of myeloid cells

Question 2

What is peak age

Answer 2

40-60yrs

Question 3

What is the mutation involved

Answer 3

philadelphia chromosome

reciprocal translocation between long arm of chromosome 9 and long am of chromosome 22 - t(9;22)

Question 4

How does it present?

Answer 4

Chronic and insidiously:

1. WL, tiredness, fever, sweats (anaemia)
2. Extensive cell turnover - increased uric acid production 3. Splenomegaly (usually massive)- abdomen discomfort
3. Bleeding - thrombocytopenia

Question 5

What investigations would u do and what would u find

Answer 5

1. FBC - elevated WBC, anaemia,
2. Metabolic profile - uric acid elevation
3. BM biopsy - granulocytic hyperplasia
4. Cytogenetic - confirm diagnosis - Philadelphia chromosome +ve

Question 6

What is the treatment?

Answer 6

IMATINIB - BCR-ABL tyrosine kinase inhibitor

Allogenic bone marrow transplant - only cure