Haematology 4 - Chronic myeloproliferative neoplasms Flashcards

1
Q

What is the target of imatinib?

A

Mutated tyrosine kinase (by BCR-ABL gene)

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2
Q

What is the normal role of janus kinases?

A

They activate the STAT pathway, which promotes cell growth and replication

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3
Q

How does JAK2 mutation cause uncontrollable replication?

A

No longer need growth factor to activate (doesnt need EPO to activate JAK2)

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4
Q

In polycythaemia vera, what else will be abnormal on the FBC other than red cell count?

A

Pronounced thrombocytophilia and slight granulocytophilia

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5
Q

Recall some symptoms of polycythaemia vera

A
Due to hyperviscosity: 
- Headaches
- visual disturbances
- dyspnoea
Due to increased histamine release: 
- peptic ulcer
- aquagenic pruritis
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6
Q

Recall four clinical findings in polycythaemia vera

A

Plethora
Erythromelalgia (red, painful extremities)
Gout
Retinal vein engorgement

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7
Q

What is the expected level of erythropoietin in polycythaemia vera?

A

Low

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8
Q

What mutation is present in all patients with polycythaemia vera?

A

JAK2(V617F)

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9
Q

How should pseudopolychthaemia and polycythaemia vera be differentiated?

A

Isotype dilution method

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10
Q

Recall 3 causes of increased EPO

A

Hypoxia
Uterine myoma
Renal cancer

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11
Q

Recall 3 causes of pseudopolycythaemia

A

Alcohol
Obesity
Diuretics

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12
Q

Recall 3 ways in which polycythaemia vera can be treated

A
  1. Venesection
  2. Cytoreductive therapy
  3. Aspirin to reduce thrombosis risk
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13
Q

What is idiopathic erythrocytosis?

A

An isolated erythrocytosis with low EPO, where JAK2 V617 mutation is absent (although JAK mutation in exon 12 may be present)

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14
Q

How should idiopathic erythrocytosis be treated?

A

Venesection only

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15
Q

How is essential thrombocytothaemia defined?

A

Chronic myeloproliferative neoplasm with a sustained thrombocytosis > 600 x 10^9/L

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16
Q

Which age group is most at risk of essential thrombocytothaemia?

A

Bimodal:
Small peak at 30y (M=F)
Larger peak at 55y (F>M)

17
Q

What are the 2 most likely presentations for patients with essential thrombocytothaemia?

A

Thrombosis

or bleeding?? paradoxically

18
Q

Is there a JAK2 mutation in essential thrombocytothaemia?

A

Yes in 50%

19
Q

What is the best treatment for essential thrombocytothaemia?

A

Hydroxycarbamide (anti-metabolite)

20
Q

Which condition is “tear drop poikilocytosis” pathognemonic of?

A

Myelofibrosis

21
Q

Which cells are hyperproliferating in myelofibrosis?

A

Mostly megakaryocytes and granulocytes

22
Q

Recall 2 signs of myelofibrosis

A

Massive spleen

Anaemia

23
Q

What is the best treatment for myelofibrosis?

A

Ruxolotinib - a JAK2 inhibitor

24
Q

Recall 3 bad prognostic indicators in CLL

A

LDH raised
CD38+
VH unmutated (pre-germinal centre)
17p(TP53) mutation

25
Q

Recall 3 good prognostic indicators in CLL

A

IgH mutated (post germinal center)

26
Q

What is the 1st line treatment for CLL with a p53 deletion?

A

Ibrutinib (targets brutons tyrosine kinase- BTK, a protein that is right in the middle of the b-cell receptor. Thus disrupts cell growth)