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Haematology > Myeloproliferative Disorders > Flashcards

Myeloproliferative Disorders Flashcards

1
Q

What is myeloproliferative neoplasms

A

Clonal HSCs disorder with increased production of RBCs &/ granulocytes &/ platelets (doesn’t affect lymphocytes)

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2
Q

What are the sub-types of chronic myeloproliferative neoplasms

A

BCR-ABL1 positive
- Chronic myeloid leukaemia

BCR-AB1 negative
- Primary myelofibrosis (abnormal proliferation fibroblasts)
- Essential thrombocythaemia (over production platelets)
- Polycythaemia Vera (over production RBCs)

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3
Q

What are 4 reactive causes of elevated RBCs (secondary polycythaemia)

A
  • Chronic hypoxia (COPD, heart disease, OSA, smoking etc)
  • Kidney disease
  • Erythropoietin secreting tumour
  • Medications (anabolic steroids, diuretics)

NOTE: diuretics/ dehydration cause pseudopolycthaemia (not a true elevation in RBCs)

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4
Q

What are 3 reactive causes of elevated neutrophils

A

Bacterial infections
Acute inflammation & tissue damage
Corticosteroids

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5
Q

What are 2 reactive causes of elevated eosinophils

A

Allergy
Parasitic infection

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6
Q

What are 4 reactive causes of elevated platelets

A

Infection
Iron deficiency
Malignancy
Blood loss

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7
Q

What would make you consider a myeloproliferative neoplasm

A
  • High neutrophil +/- RBC +/- platelet +/- eosinophil/basophil
  • With NO reactive explanation
  • Splenomegaly or thrombosis in unusual place increases suspicion
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8
Q

List features common to myeloproliferative neoplasm

A
  • Asymtpomatic
  • Increased cell turnover - gout, fatigue, weight loss, sweats
  • Splenomegaly S&S - referred pain, early satiety
  • Marrow failure (less likely in Polycythaemia Vera and ET)
  • Thrombosis (TIA, MI, claudication etc)
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9
Q

What is chronic myeloid leukaemia

A

A clonal stem cell disorder that affects the primitive compartment (HSCs & myeloid progenitors) & causes granulocytosis/ neutrophilia (+/- thrombocytosis)

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10
Q

What translocation & chromosome is characteristic of CML (~90%)

A

Translocation of ABL gene on chromosome 9 to attach with the BCR gene on chromosome 22

This causes a BCR-ABL1 gene aka Philadelphia chromosome

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11
Q

CML Pathophysiology

A
  • BCR-ABL1 gene/translocation (Philadelphia chromosome)
  • Increased transformation from HSCs to myeloid progenitors
  • Subsequent excessive myeloid progenitor proliferation
  • Then myeloid progenitor maturation (‘chronic’)
  • Resultant excessive production of granulocytes & precursors (& occasionally thrombocytosis)
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12
Q

What are the three phases of CML

A
  • Chronic (3-5yrs) - granylocytosis & myelocytosis +/- thrombocytosis, no maturation defect
  • Accelerated phase - genetics ‘hits’, increase in blasts, loss of maturation
  • Blast crisis - reminiscent of acute leukaemia with maturation defect
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13
Q

CML clinical features

A
  • Common features of myeloproliferative neoplasms
  • Hyperleucocytosis S&S
  • Marrow failure similar to AML/ALL in blast crisis
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14
Q

CML blood findings (chronic phase)

A
  • Normal or low Hb
  • Leukocytosis with neutrophilia
  • Myeloid precursors (myelocytes)
  • +/- Eosinophilia, basophilia, thrombocytosis
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15
Q

CML investigations

A

Blood count & film
Cytogenetics using FISH to detect t(9;22) (of blood/ marrow)
Bone marrow biopsy not always necessary

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16
Q

What is the gene product of the BCR-ABL1 gene

A

A tyrosine kinase - causes abnormal phosphorylation

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17
Q

CML treatment

A

Tyrosine kinase inhibitors e.g. Imatinib

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18
Q

What is characteristic of polycthaemia Vera

A

High Hb accompanied by a TRUE INCREASE IN RBC MASS
Note: can also have excessive production of other lineages

19
Q

Polycthaemia Vera vs secondary polycthaemia vs pseudopolycythaemia

A

Polycythaemia Vera - genetic mutation or defect in the bone marrow that produces a true increase in RBC mass

Secondary Polycythaemia - underlying condition that causes increased RBC production & hence increased RBC mass

Pseudopolycthaemia - High Hb without a true increase in RBC mass

20
Q

Is there an increased plasma viscosity in polycthaemia Vera

A

No - only a raised blood viscosity

21
Q

Polycthaemia Vera clinical features

A

Clinical features common to MPN
Clinical features of raised blood viscosity - headache, fatigue
Itch (aquagenic puritis)

22
Q

What gene is usually mutated in Polycythaemia Vera

A

JAK2 gene mutation (~95%)

23
Q

What is the impact of JAK2 mutation

A

Mutation (substitution) results in abnormal signalling =>
Activation of erythropoiesis in the absence of ligand

24
Q

Polycthaemia vera investigations

A

History to check for secondary/pseudo polycthaemia
Examination to check for e.g. splenomegaly
FBC & blood film
JAK2 mutation

25
Q

Polycthaemia Vera treatment

A

Venesection (immediate symptom control)
Aspirin (thrombosis prevention)
Cytotoxic oral chemotherapy e.g. hydroxycarbamide (definitive)

26
Q

What is essential thrombocythaemia

A

Uncontrolled production of abnormal platelets

27
Q

Why can essential thrombocythaemia cause both a thrombosis as well as bleeding

A

Increased platelets => thrombosis
Increased use of vWF => acquired vWF disease => bleeding

28
Q

Essential thrombocythaemia clinical features

A

Common features of MPN
Thrombosis & bleeding

29
Q

Essential thrombocythaemia investigations

A
  • Exclude relative thrombocytosis!!! (B I M I)
  • Exclude CML by BCR-ABL1 testing
  • Blood genetics e.g. JAK2 mutations (diagnostic!)
  • Bone marrow biopsy
    (elevated megakaryocytes is characteristic of ET)
30
Q

Essential thrombocythaemia treatment

A

Usual treatment - anti-platelets
(If very high risk of thrombosis) - hydroxycarbamide
Other - anagrelide, interferon alpha

31
Q

What is myelofibrosis

A

Abnormal proliferation of marrow fibroblasts causing bone marrow fibrosis and lack of production of normal cells

Can be primary - idiopathic
Can be secondary - post-polycythaemia/ET

32
Q

Characteristic blood film of myelofibrosis

A

Leukoerythroblastic blood film
+/- teardrop shaped RBCs

33
Q

Myelofirbosis clinical features

A

Marrow failure - anaemia, bleeding, infection
Bone marrow fibrosis with no cause
Extramedullary haematopoiesis (hepato/splenomegaly)
Hypercatabolism - Night sweats & weight loss

34
Q

What are three causes of leucoerythroblastic haematopoiesis

A

Reactive e.g. sepsis
Marrow infiltration e.g. malignancy
Myelofibrosis

35
Q

Myelofibrosis investigations

A

Blood count & film - leukoerythroblastic & tear shaped RBCs
Bone marrow - dry aspirate, firbosis on trephine biopsy
Genetic testing - JAK2, CALR, MLP

36
Q

Myelofibrosis treatment supportive care

A

Blood transfusion, platelets, antibiotics

37
Q

Myelofibrosis gold standard treatment

A

JAK2 inhibitors

(Or allergenic stem cell transplantation in select few)

38
Q

Essential thrombocythaemia diagnostic test

A

Blood genetics e.g. JAK2 mutation

39
Q

Essential thrombocythaemia characteristic bone marrow features

A

Increased megakaryocytes

40
Q

Hyperleukocytosis S&S

A

Abnormal aggregation & clumping of WBCs in blood vessels
=> impaired blood flow & oxygen delivery to tissues
=> e.g. headaches, confusion, SOB etc

41
Q

What are symptoms of splenomegaly

A

Early satiety
Pain in LUQ & referred pain
Pancytopenia
Compression of nearby structures e.g. portal hypertension

42
Q

Why does myelofirbosis cause hypercatabolism

A

Increased production of inflammatory cytokines by abnormal marrow cells => chronic inflammation

43
Q

What are the three mutations in PV, ET & myelofirbosis (MPN)

A

JAK2 (main), CALR, MLP

Haematology (32 decks)

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