Chronic Myeloproliferative Disorders Flashcards Preview

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Flashcards in Chronic Myeloproliferative Disorders Deck (31):
1

What is meant by a myeloproliferative disorder?

Clonal haemopoietic stem cell disorders with an increased production of on or more types of haemopoietic cells. Maturation is relatively preserved, unlike acute leukemia

2

What are the two subtypes of myeloproliferative disorders?

1. BCR - ABL1 Positive (Chronic Myeloid Leukemia)
2. BCR ABL1 Negative

3

What chromosome is mutated in CML?

Philadelphia chromosome

4

What is the problem in the philadelphia chromosome?

Balanced translocation from chromosome 9 to chromosome 22

5

What are the three stages on CML?

Chronic
Accelerated
Blast crisis

6

What clinical features are you looking for in CML?

Splenomegaly
Hypermetabolic syndrome
Gout

7

What will the blood count look like in CML?

Normal/low Hb
Leucocytosis with neutrophilia and myeloid precursors (myelocytes), eosinophilia, basophilia

8

What does the philidelphia chromosome cause?

A new gene - BCR - ABL 1

9

What is the gene product of the philidelphia chromosome and what does it do?

Tyrosine kinase which causes abnormal signalling and the haematological changes seen in CML

10

What is the treatment for CML and how does it work?

Tyrosine kinase inhibitor (Imatinib)

11

What are the three BRC - AB41 negative myeloproliferative disorders?

Polycythaemia rubra vera
Essential thrombocythaemia
Idiopathic myelofibrosis

12

What are the causes of secondary polycythaemia?

Chronic hypoxia (eg in COPD)
Smoking
EPO secreting tumout

13

What is a cause of pseudopolycythaemia?

Dehydration (Decreased plasma volume with result in disproportionate red cell numbers)

14

A patient presents with headaches, fatigue and says they get very itchy after every bath or shower.

Polycythaemia Rubra Vera

15

What is the most important test to do to confirm a diagnosis of Polycythemia Rubra Vera?

JAK2 mutation status

16

What is the genetic mutation see in almost all patients with Polycythemia Rubra Vera?

JAK2

17

What % of patients with Polycythemia Rubra Vera have the JAK2 gene?

95%

18

What is JAK2 and what does it do?

A kinase that results causes a loss of auto inhibitions

19

List all the main investigations you would do for Polycythemia Rubra Vera

FBC
Blood film
JAK2 status
CXR
02 sats

20

What is the treatment of Polycythemia Rubra Vera?

Venesection
Aspirin
Cytotoxic oral chemotherapy (Hydroxycarbamide)

21

What is essential thrombocythaemia?

Uncontrolled production of abnormal platelets

22

What symptoms do patients get in essential thrombocythaemia?

Thrombosis
Bleeding (due to acquired von willebrend disease)
Microvascular Occlusion
Gout
Fatigue

23

How do you diagnose essential thrombocythaemia?

Exclude reactive cause (blood loss, inflammation, malignancy, iron deficiency)
JAK2 mutation

24

What is the treatment for essential thrombocythaemia?

Treatment dependent on age (younger patients most likely don't need any treatment) but older patients need anti thrombotic agents such as aspirin.
Cytoreductive therapy to control proliferation (hydroxycarbamide)

25

What is myelofibrosis?

A condition in which an abnormal clone of haemopoietic stem cells in the bone marrow and other sites results in fibrosis, or the replacement of bone marrow with scar tissue

26

What is leukoerythroblastic change?

Nucleated red blood cells and primitive white cells seen in the peripheral blood

27

How does myelofibrosis present?

Marrow failure (bleeding, infection)
Splenomegaly
Hypercatabolism

28

In which conditon do you see teardrop shaped red blood cells?

myelofibrosis

29

What important changes to the blood film do you see in myelofibrosis?

Leucoerythroblastic change
Tear drop red blood cells

30

What important changes do you see on a trephine biopsy of myelofibrosis?

Fibrosis

31

What is the treatment for myelofibrosis?

Supportive (transfusion, platelets)
Allogenic stem cell transplant
JAK2 inhibitors