8: Myeloproliferative disorders Flashcards Preview

Haematology Week 3 2018/19 > 8: Myeloproliferative disorders > Flashcards

Flashcards in 8: Myeloproliferative disorders Deck (52)
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1

What is the myeloid lineage?

Granulocyte

Red blood cell

Platelet

lineages

2

What is the difference between chronic myeloid leukaemia and acute myeloid leukaemia?

Differentiation and maturation PRESERVED in chronic disease

3

Which mutation is associated with chronic myeloid leukaemia?

Philadelphia chromosome

4

CML is BCR-ABL1 (positive / negative).

CML = BCR-ABL1 positive

5

What is a normal, secondary cause for a rise in blood components?

Reactive change

in response to infection usually

6

Which blood components can increase in myeloproliferative disorders?

RBCs

Platelets

White cells (basophils/eosinophils is especially significant)

7

Which organ can enlarge in myeloproliferative disorders?

Spleen

Increased cell breakdown

8

What is a risk seen in hyperviscosity secondary to raised cell counts?

Thrombosis

9

Chronic ___ causes a secondary polycythaemia - why?

Chronic hypoxia (e.g sleep apnoea, COPD)

Persistent EPO release by the kidneys

10

What is the course of untreated chronic myeloid leukaemia?

1. Chronic phase for 3-5 years, maturation intact

2. Accelerated phase - maturation starting to fail

3. Blast crisis and death - more closely resembling an acute leukaemia

11

What are some clinical features of CML?

Hyperviscosity symptoms

Hypermetabolism - cachexia

Splenomegaly

Gout

12

How is suspected CML investigated?

FBC

Bone marrow biopsy

13

An increase in which specific blood components strongly suggest CML?

Eosinophilia

Basophilia

not normally found in large numbers

14

What might be misdiagnosed as CML based on blood changes?

Reactive changes due to infection

15

Which genetic mutation is commonly found in CML?

Unbalanced chromosome 22 translocation

'BCR-ABL' gene on the Philadelphia chromosome

16

BCR-ABL mutations on the Philadelphia chromosome affect which protein?

Tyrosine kinase

17

What is a tyrosine kinase inhibitor used to treat CML?

Imatinib

18

Imatinib is a ___ ___ inhibitor which massively increases life expectancy in which disease?

tyrosine kinase inhibitor

CML

19

CML is positive for which mutation?

BCR-ABL1

Philadelphia chromosome (22)

20

What is erythromelalgia?

Which group of diseases is it a feature of?

Hot, swollen, red, painful digits due to blood stasis

Myeloproliferative diseases

Caused by HYPERVISCOSITY of blood

21

In which disease does haemoglobin and haematocrit increase abnormally?

Polycythaemia

22

What is primary polycythaemia called?

Polycythaemia rubra vera

23

Which genetic mutation is implicated in polycythaemia rubra vera?

JAK2

24

What causes secondary polycythaemia?

Chronic hypoxia

EPO-secreting renal tumours

25

What is pseudopolycythaemia?

Appearance of raised Hb / haematocrit which is actually due to a reduced plasma volume

26

What causes pseudopolycythaemia?

Dehydration / Diuretic therapy

Obesity

Alcohol excess

27

Pseudopolycythaemia and ___ polycythaemia mean the same thing.

apparent polycythaemia

28

What are some symptoms of primary polycythaemia?

Plethora

Itch (caused by warm water)

Hyperviscosity symptoms

29

Which genetic mutation is screened for in polycythaemia rubra vera?

JAK2

30

JAK2 mutations are seen in 95% of patients with ___ ___ ___.

polycythaemia rubra vera (primary)