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Clinical Pathology > 40 - Chronic Myeloid Proliferative disease > Flashcards

40 - Chronic Myeloid Proliferative disease Flashcards

1
Q

Chronic myeloproliferative disorder definition

A

Clonal stem cell disorders of the bone marrow

Malignant

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2
Q

E.gs of CMPD

A

Polycythaemia vera
Essential thrombocytosis
Idiopathic myelofibrosis

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3
Q

Polycythaemia vera

A

Increased RBCs
±neutrophils
±platelets
Need to distinguish between 2° polycythaemias and relative polycythaemias

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4
Q

Essential thrombocythaemia

A

Increased platelets

Need to distinguish from reactive thrombocytosis

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5
Q

Myelofibrosis

A

Variable cytopenias with a large spleen

Need to distinguish from other causes of spinomegaly

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6
Q

Polycythaemia vera - age distribution

A

All ages

Peak at 50-70

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7
Q

Polycythaemia vera - symptoms

A 
Insidious 
Itching (aquagenic - hot baths)
Plethoric face
Headache, muzziness, general malaise
Tinnitus 
Peptic ulcer
Gout
Gangrene of the toes
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8
Q

Polycythaemia vera - signs

A

Plethora
Engorged retinal veins
Splenomegaly

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9
Q

Polycythaemia vera - diagnosis

A

Persistent increased Hb/hct >0.5

Distinguish: relative vs absolute polycythaemia
&
primary vs secondary polycythaemia

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10
Q

Primary polycythaemia =

A

Polycythaemia vera

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11
Q

2° polycythaemia causes

A

Central hypoxic processes inc. chronic lung diseases, R->L shunts heart disease, CO poisoning, smoker, high altitude

Renal disease
EPO production tumours
Drugs: androgen preparations, postrenal transplant erythrocytosis

Congenital: high O2-affinity Hb; EPO receptor mediated

Idiopathic

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12
Q

Polycythaemia vera - second line tests

A

If EPO elevated: CXR, ABG, USS abdomen

EPO normal or low: JAK2 mutation, bone marrow exam, EXON12 mutation

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13
Q

JAK

A

Janus kinases (tyrosine kinases)

Signalling pathway for cytokine receptors

Presence of JAK2 V617F mutation in peripheral blood DNA is diagnostic for myeloproliferative disorders

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14
Q

JAK test

A

Allele specific DNA-based PCR

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15
Q

Polycythaemia vera - treatment

A

Venesections aim HCT

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16
Q

Thrombocytosis - two types

A

Primary
Reactive - surgery, infection, inflammation, malignancy, Fe deficiency, hyposplenism, haemolysis, drug induced, rebound post chemo

17
Q

Thrombocytosis - investigation

A

Persistent platelets >450 x109/l

1st line: FBC and film, ferratin, CRP, CXR, ESR

18
Q

Thrombocytosis - 2nd line investigations

A

JAK2
CALR
Bone marrow biopsy
Extensive search for 2° cause

19
Q

CALR mutation

A

Calreticulin mutation

Cell signalling protein produced in ER
Mutation of Exon 9
Found in myeloid progenitors in ET
Mechanism of action unknown 
Found in up to 90% of JAK2 negative ET
20
Q

Thrombocytosis - diagnosis

A

JAK2 - 50%

CALR mutation - 45%

21
Q

Thrombocytosis - treatment

A

Assess thrombotic risk - age, hypertension, diabetes, platelet count >1500, history of thrombosis

Antiplatelet treatment - aspirin 75mg daily, cytoreduction is high risk

22
Q

How do you do cytoreduction?

A

Hydroxycarbamide
Inferferon
Anagrelide
P32

23
Q

Thrombocytosis - prognosis

A

Excellent - 20 yr median survival

Risk of AML or myelofibrosis

CALD mutated have lower thrombosis risk

24
Q

Myelofibrosis - presentation

A

Pancytopenia
B symptoms
Massive splenomegaly

25
Q

Myelofibrosis - investigations

A

FBC and film

Haematinics

26
Q

Myelofibrosis - diagnosis

A

Blood film
Bone marrow results
JAK2 mutation (50%)
CALR mutation (30%)

27
Q

Splenomegaly - causes

A

CHICAGO

Cancer
Haematological
Infection
Congestion
Autoimmune
Glycogen storage disorders
Other - amyloid
28
Q

Myelofibrosis - treatment

A

Supportive care
JAK2 inhibitors
Bone marrow transplant

29
Q

Myelofibrosis - prognosis

A

Poor - median survival 5 years

30
Q

Chronic myeloid leukaemia - prevalence

A

Rare 1 per 100,000
Median age is 55-60
M:F = 1.5:1

31
Q

Chronic myeloid leukaemia - characteristics

A

Leucocytosis+++
Leucoerythroblastic blood picture
Anaemia
Splenomegaly

32
Q

Chronic myeloid leukaemia - symptoms

A 
Ab discomfort
Ab pain
Fatigue
Venous occlusion
Gout
33
Q

Chronic myeloid leukaemia - treatment for chronic phase

A

Low dose oral cytotoxic drugs (busulphan, hydroxycarbamide, IFN)

34
Q

Chronic myeloid leukaemia - treatment for acute crisis

A

Intensive chemo

Poor outcome

35
Q

Chronic myeloid leukaemia - allogenic bone marrow transplant

A

Curative in 50% of patients

36
Q

Chronic myeloid leukaemia - imatinib resistance

A

Activating loop mutations in BCR-ABL confer resistance and loss of disease control

New TKI e.g. nilotinib, dasatinib

37
Q

Chronic myeloid leukaemia - imatinib use

A

Designer molecular therapy
Model and paradigm for other cancers
Tyrosine kinase inhibitors (TKIs) increasingly used in solid tumours

38
Q

Chronic myeloid leukaemia - summary

A

Pluripotent stem cell disorder
Defined by the t(9;22) translocation
Driven by BCR-ABL fusion tyrosine kinase
Chronic phase followed by acute transformation
Designer molecule treatment (imatinib) has proved highly successful
BCR-ABL mutations confer resistance to imatinib

Clinical Pathology (65 decks)

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