Chronic Myeloid Leukaemia Flashcards

1
Q

What cytogenic change is characteristic of chronic myeloid leukaemia?

A

Philadelphia chromosome

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2
Q

What is the translocation of the genes between?

A

Chromosome 9 and 22: it is a t(9:22) translocation.

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3
Q

What is the name of the fusion gene on the Philadelphia chromosome ?

A

BCR-ABL

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4
Q

How many phases are there of chronic myeloid leukaemia?

A

Three phases

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5
Q

What are the three phases of chronic myeloid leukaemia?

A
  • The chronic phase
  • The accelerated phase
  • The blast phase.
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6
Q

How long does the chronic phase last?

A

Around 5 years

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7
Q

How does a person in the chronic phase present?

A

Asymptomatically

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8
Q

How are patients usually diagnosed in the chronic phase?

A

Incidentally with a raised white cell count

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9
Q

What occurs in the accelerated phase?

A

Abnormal blast cells take up a high proportion of the cells in the bone marrow and blood

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10
Q

What happens to the patient in the accelerated phase?

A

They become more symptomatic

They become immunocompromised

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11
Q

What symptoms do patients develop in the accelerated phase?

A

Anaemia

Thrombocytopenia

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12
Q

What does the blast phase cause in the blood?

A

A high proportion of blast cells

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13
Q

How does the patient present in the blast phase?

A

More severe symptoms

Pancytopenia (deficiency of RBC, WBC and platelets)

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14
Q

How is the blast phase described?

A

Fatal

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15
Q

How is chronic myeloid leukaemia normally diagnosed?

A

Blood test

Bone marrow biopsy

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16
Q

What would you find in a blood test in someone with chronic myeloid leukaemia?

A

Leucocytosis- raised WCC

17
Q

What is the first line treatment for chronic myeloid leukaemia?

A

Imatinib

18
Q

What is the mechanism of Imatinib?

A

Direct inhibitor of the BCR-ABL
Tyrosine kinase inhibitor

19
Q

How does chronic myeloid leukaemia present?

A

anaemia: lethargy
weight loss and sweating are common
splenomegaly may be marked → abdo discomfort

20
Q

Example of a patient presenting with CML

A

Weight loss
general malaise
Anaemia symptoms (pale conjunctivae, increased pulse general malaise)
Splenomegaly

Raised WCC in the blood