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Year 5 Path COPY WAKANA > Haem - myeloproliferative neoplasias + acute leukaemia > Flashcards

Haem - myeloproliferative neoplasias + acute leukaemia Flashcards

1
Q

Normal haumatopoeisis is regulated by…?What do they interact with?

A

Growth factors.

These interact with receptors –> tyrosine kinase activation

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2
Q

Important enzymes in haematopoeisis? How does mutation affect this?

A

Janus Kinases

Mutation –> they become constitutively active –> aberrant cell proliferation

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3
Q

2 mutations seen in MPNs?

A

JAK2 V617F mutation

Exon 12 mutation

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4
Q

Name 3 myeloproliferative neoplasia which are BCR-ABL negative?

A

Essential thrombocytosis
Polycythemia Rubra Vera
Myelofibrosis

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5
Q

2 main features of MPNs?

Common presentations?

A
  • Assoc with BM fibrosis

- Increased proliferation of mature cells

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6
Q

How does blood from MPN patients behave on agar culture?

A

Cells will grow in absence of EPO or TPO

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7
Q

Diagnostic for PRV?

A

Increased RBCs + JAK2 V617 mutation

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8
Q

Epidemiology for PRV - age? sex?

A

M>F

Generally 60yos

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9
Q

Sx of PRV?

A

Hyper viscosity: headaches, dizziness, stroke, retinal vessel engorgement, visual disturbance, fatigue

Histamine release: AQUAGENIC PRURITIS. peptic ulcers

Gout

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10
Q

Haem Ix in PRV?

A

High Hb + Hct + MCV
Often high Plts + WCC

Plasma volume high (from isotope dilution method)
Low EPO

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11
Q

Aim of PRV Mx? how is this achieved?

A

Hct<45% + Plt <400x10^9

  • Venesection + cytoreductive therapy
  • aspirin + hydroxycarbamide
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12
Q

Dx if pt has raised HCt with an JAK2 Exon 12 mutation?

A

Idiopathic erythrocytosis

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13
Q

Features of idiopathic erythrocytosis?
Genetics?
Tx?

A
  • Isolated raised RBCs
  • No V617F mutation - often have exon 12 mutation
  • Managed with venesection alone
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14
Q

What is the disorder?

  • 2 age peaks at 30 and 55 yo
  • BM dominated by megakaryocytes
  • Blood film = large platelets
  • Plt count >600*10^9
A

Essential thrombocytosis

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15
Q

Genetics in essential thrombocytosis

A
  • 50% have JAK2 mutation therefore difficult to diagnose in absence of mutation
  • Some have TPO receptor mutation
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16
Q

Clinical features of essential thrombocytosis

A
  • Thrombosis (stroke/MI/gangrene/haemorrhage)
  • Dizziness, headaches, visual
  • splenomegaly
  • WEIRDLY, BLEEDING
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17
Q

Ix results in essential thrombocytosis

A

Platelets >600*10^9
Blood film: large platelets, megakaryocyte fragments
BM: megakaryocytes + clustering

V617F mutation in 50%

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18
Q

Treatment of essential thrombocytosis - give 4 medications (and some of their downfalls)

A
  • Aspirin (prevent thrombosis)
  • Hydroxycarbamide (can worsen anaemia)
  • Anagrelide, reduces platelet formation (can transform to MF)
  • alpha-IFN useful in <40yos.
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19
Q

Myelofibrosis - what is it characterised by?

2 types?

A
  • Fibrosis of BM + raised megakaryocytes in BM
  • Often in older patients
  • Also ANAEMIC
Primary = genetic
Secondary = developed from PRV, ET
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20
Q

Major examination finding in myelofibrosis?

A

Splenomegaly

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21
Q

Blood film in myelofibrosis - 4 features

A
  • Tear drop poikilocytes
  • Leukoerythroblasts
  • Giant platelets
  • Circulating megakaryocytes
22
Q

Bone marrow in myelofibrosis - 3 things

A

“Dry tap”
Lots of fibrosis
Megakaryocytes - clustering

23
Q

Mx of myelofibrosis

A

Supportive with blood products

  • Splenectomy?!
  • Hydroxycarbamide (can worsen anaemia)
  • Thalidomide
  • Steroids
  • BMT (experimental)
24
Q

Prognosis of myelofibrosis? poor prognostic factors?

A

3-5 years

Severe anemia, thrombocytopenia, massive splenomegaly

25
Q

Proportion of blasts in acute leukaemia

A

> 20% in bone marrow

26
Q

AML - age?

A

Associated with increasing age

27
Q

4 genetic probs seen in AML?

A

Translocations, Trisomy (21,8), deletions, inversions

28
Q

Pathogenesis in AML?

A

at least 2 genetic hits: 1) promote proliferation 2)dysregulated differentiation
BLOCK in granulocyte maturation –> increased blast cells

29
Q

A special type of AML which is a medical emergency? Genetic cause? which cells predominate? Presentation?

A

APML (acute promyelocytic leukaemia)

  • PML-RARA gene, t(15;17)
  • Block in maturation –> increased PROMYELOCYTES
  • Presents with DIC or haemorrhage
30
Q

Pathognomic feature of AML

A

Auer rods

31
Q

How to diagnose suspected AML? Which tests? what results are you looking for?

A
  • 1)Blood film - Auer rods, granules
  • 2) Immunophenotyping
  • 3) Bone marrow aspirate
32
Q

Clinical features of AML

A

BM failure: anemia, bleeding (bleeding), infections

Local infiltration: hepatosplenomegaly!! Also CN palsy, gum infiltration

Hyper viscosity from high WCC: retinal haemorrhages + exudates

33
Q

Ix done in confirmed AML? why?

A

Cytogenetics for all patients
Molecular studies + FISH

^prognostic indicators and aids Mx plan

34
Q

2 aspects of Mx of AML? explain

A
  • Supportive (blood products + Abx + allopurinol + fluids)

- Chemotherapy = 4-5 cycles for 6 months. COMBINATION

35
Q

Prominent clinical features of ALL

A

BM failure = anaemia, infections, bleeding

LYMPHADENOPATHY, thymic enlargement, bone pain

36
Q

How does ALL arise? subtypes?!

A

ALL arises from protooncogene dysregulation = Translocation –> Fusion genes/Promotor dysregulation
or from HYPERPLOIDY

They can arise from B-cell (bone marrow) or T-cell (thymus) lineage

37
Q

List the Ix which must be done for ALL

A
  • Blood film and FBC
  • Bone marrow aspirate
  • Immunophenotyping (must know if B/T-cell)
  • Cytogenetics
  • Molecular analysis (in selected pts)
38
Q

Supportive therapy is needed in Mx of ALL. What specific therapy is needed?

A
  • Systemic chemo + CNS-directed (intrathecal) therapy

- 2 years for girls, 3 years for boys (testes involvement)

39
Q

Why does immunophenotyping matter in suspected leukaemia?

A

Mx of AML and ALL is v different

T-lineage and B-lineage ALL is treated v differently

40
Q

Why does molecular genetics matter in ALL?

A

If philadelphia chromosome is present, can treat with IMATINIB

41
Q

A 3-year-old girl develops pain in her legs and is found to have generalised lymphadenopathy and a palpable spleen. Her blood count shows WBC 35.4 × 109/l, Hb 77 g/l and platelet count 85 × 109/l. The most likely diagnosis is ?

A

ALL

42
Q

Translocation in AML?

A

t(8;21)

43
Q

AML - which cell type is raised and why?

A

High numbers of blast cells, due to blocked maturation of myelocytes therefore

44
Q

Diff in pathophysiology btw AML and APML

A

APML - block in maturation is later, therefore there are high numbers of promyelocytes

(AML = high numbers of blast cells)

45
Q

Sudan Black B - which haem malignancy

A

AML

46
Q

Immunophenotyping = what is +ve in AML?

A

MPO (myeloperoxidase)

47
Q

chromosome inversion in some patients with AML

A

Chr 16 inversion

48
Q

Broadly speaking, what is the management of AML

A

Supportive + chemo (4-5 cycles for 6 months)

49
Q

How does presentation of AML and ALL differ (apart from age)

A

ALL = more marked lymphadenopathy

50
Q

Which Ix are useful for prognostic indication in ALL

A

cytogenetics

molecular analysis

51
Q

4 stages of ALL Tx

A

Remission induction
Consolidation + CNS therapy
Intensification
Maintenance

52
Q

Hypo vs hyperdiploidy in ALL - which one has a better prognosis?

A

Hyper

Year 5 Path COPY WAKANA (63 decks)

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