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Clinical Pathology > Chronic Myeloproliferative Disorders and chronic myeloid leukaemia > Flashcards

Chronic Myeloproliferative Disorders and chronic myeloid leukaemia Flashcards

1
Q

What are chronic myeloproliferative disorders? Give examples

A

Clonal stem cell disorders of the bone marrow which can are malignant :

1) Polycythaemia Vera
2) Essential Thrombocytosis
3) Idiopathic Myelofibrosis

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2
Q

What are the 3 types of cell the bone marrow stem cells differentiate into?

A

1) Granulocytes (neutrophils, eosinophils, basophils)
2) ertythrocytes
3) Megakaryocytes (platelets)

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3
Q

What chronic myeloproliferative disorder causes increased RBCs, with increased neutrophils, and increased platelets?

A

Polycythaemia Vera

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4
Q

Increased platelets is a sign of what chronic myeloproliferative disorder?

A

Thrombocythaemia

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5
Q

In what chronic myeloproliferative disorder is Variable cytopenia (lowered blood cell count) and a large spleen seen.

A

Myelofibrosis

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6
Q

Which chronic myeloproliferative disorder causes splenomegaly?

A

1) Myelofibrosis

2) Polycythaemia Vera

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7
Q

What is myelofibrosis?

A

Scarring in the bone marrow that leads to severe anaemia, weakness and an enlarged liver and spleen.

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8
Q

What is the peak age of Polycythaemia?

A

50-70 years

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9
Q

What is polycythaemia Vera?

A

Polycythaemia Vera is caused by a mutation in JAK2 gene which causes the bone marrow makes too many RBCs (also sometimes WBCs and Platelets.)

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10
Q

What chronic myeloproliferative disease are are the following symptoms associated with?

  • itching
  • plethoric face (red face)
  • Head ache
  • malaise
  • tinnitus
  • peptic ulcer
  • gout
  • gangrene of toes
A

Polycythaemia Vera

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11
Q

What chronic myeloproliferative disorder are the following signs associated with?

  • Plethora (redness)
  • Engorged retinal veins
  • splenomegaly
A

Polycythaemia Vera

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12
Q

What are the causes of secondary polycythaemia?

A

1) central hypoxic processes:
- chronic lung disease
- right to left heart shunts
- carbon monoxide poisoning
- smoking
- high altitude

2) Renal disease
- Erythropoeitin producing tumours
- drug associated
- congenital

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13
Q

What is a diagnostic factor of Polycythaemia Vera?

A

Persistent increased Hb/hct > 0.5

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14
Q

What is Persistent increased Haemoglobin / haemocrit >0.5 a diagnostic sign of?

A

Polycythaemia Vera

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15
Q

What is a Phenylalanine for valine mutation at 617 in protein (V617F) associated with?

A

Phenylalanine for valine mutation at 617 in protein (V617F) is a JAK2 mutation.

If found in peripheral blood DNA this is diagnostic of a myeloproliferative disorder.

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16
Q

What is the treatment for polycythaemia vera?

A
  • Venesections (removal of blood)

- Aspirin 75mg daily

17
Q

What are the following causes of (Essential thrombocytosis or reactive thrombocytosis)?

1) surgery
2) Infection
3) Inflammation
4) Malignancy
5) Iron def
6) Hyposplenism
7) Haemolysis
8) Drug incudes
9) rebound post chem

A

REACTIVE thrombocytosis

18
Q

50% of essential thrombocytosis is caused by a JAK2 mutation. What mutation causes 45% of essential thrombocytosis?

A

CALR mutation

calreticulin mutation affect cell signalling

19
Q

how is essential thrombocytosis treated

A

antiplatelet treatment:
Aspirin 75mg daily

Cytoreduction

20
Q

What is the prognosis of thrombocytosis?

A

20 year survival

21
Q

what chronic myelpproliferative disease are the following presenting features a sign of?

  • pancytopenia (RBC, WBC and platelet deficiency)
  • B symptoms
  • massive spenomegaly
A

Myelofibrosis

22
Q

Describe the memory aid CHICAGO that is used for causes of Splenomegaly?

A

C - cancer

H - Haematological (Myelofibrosis)

I - Infection (Schistosomiasis, malaria)

C -Congestion (liver disease, portal hypertension)

A-Autoimmune (haemolyisis)

G - Glycogen storage disorders.

O - other (amyloid deposition)

23
Q

What are the following characteristics associated with?

  • Leucocytosis (increased WBC)
  • Leucoerythroblastic blood picture
  • Anaemia
  • Splenomegaly
A

Chronic myeloid leukaemia

24
Q

What are some of the syptoms of chronic myeloid leukaemia?

A
  • Abdo pain (splenomegaly / splenic infarction)
  • fatigue (anaemia)
  • venous occlusion (in retinal vein, DVT)
  • gout (hyperyricaemia)
25
Q

What drug does BCR-ABL mutations confer resistance to?

A

Imatinib

26
Q

What disorder is fined by the t(9;22) translocation and driven by BCR-ABL fusion tyrosine kinase?

A

Chronic Myeloid Leukaemia

27
Q

What are the risk factors of thrombosis?

A

1) Age > 60yrs
2) Hypertension
3) Diabetes
4) Platelets > 1500

Clinical Pathology (59 decks)

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