cml and myeloproliferative diseases Flashcards by Lisa Azizi

myeloid means

white blood cells from bone marrow

erythrocytes

megakaryerthrocyte > platelet

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relative polycythaemia or true?

g/l haemoglobin

polycythaemia haemoglobin is raised

is it excess haemoglobin?
or is it plasma ? if it goes down

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how can true polycythaemia be categorised?

secondary /no malignant

primary - myeloproloiferative

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MPD examples?
Ph -

PV
ET
primary myelofibrosis (PMF)

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PH +
myeloproliferalative

CML

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raised cell mass and normal plasma volume means?

true polycythaemia

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secondary polycythaemia ?
what would be raised?

EPO

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why does erythropoeitin raise in hypoxic lung disease / cyanotic heart disease??

inadequate oxygenation of the blood

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appropriate reasons for epo to be raised?

altitude
high affinity haemoglobin
hypoxic lungs
cyanotic heart

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inappropirate raised epo?

renal disease?
cysts / tumours/ inflammation
uterine myoma
liver lung tumours

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why does high altitude cause raised erythropoeitin?

it happens because of low atmospheric pressure at high altitudes. Oxygen saturation levels refer to the extent hemoglobin is bound or saturated to oxygen

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myeloproliferative means?

excess of mature cells

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what processes can be disrupted by DNA mutation?

cellular differentiation - type 2
cellular proliferation - type 1

anti-apotosis

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mutation mechanisms?

dna point mutation
chromosomal translocations
creation of novel fusion gene
disruption of proto-oncogene

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what is a disrupted proto-oncogene

this is something that normally controls the cell growth
but when a proto-oncogene is disrupted it causes accelerated and uncontrolled growth

a gene that promotes the specialization and division of normal cells that becomes an oncogene following mutation

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tyrosine kinsae are normally

inactive

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point mutation in _____ occurs in polycythaemia vera

how does it work?

JAK2
calreticulin
cMPL

always activated does not require binding

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diagnosis of MPD

clinical features
splenomegaly

fbc/bone marrow biopsy
EPO
mutation test

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PV epidemiology
incidence
mean age?
male/female?

2-3/100000

more males/females
mean age at diagnosis - 60

5% below <40

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fbc ? PV

Hb 184g/l hct 0.55

symptoms of hyper viscose blood?

headaches /light headedness
TIA
stroke
Visual Disturbances
fatigue/dyspnoea

aquagenic pruritus
peptic ulceration

test for JAK2 v617F

what is principle of mx?
target?

reduce HCT
<45%
venesection
hydroxycarbamide

risk of thrombosis reduction
control hct
keep platelets below 400x109/l

Essential thrombocytopenia is?

normal rbc
normal wbc

isolated elevation of platelets

401x10^9/L platelet count?

either ET
or reactive

if it is 1000000x10^9 platelet count?

defo ET

ET clinical presentation dysfunctional platelet excess platelet

mucous membrane/ cutaneous thrombosis / CVA, gangrene TIA DVT / PE headaches/ dizzy/visual splenomegaly

ET mx?

prevent bleed/ thrombobosus aspirin hydroxycarbamide anagrelide - specific inhibition of platelet formation S/E palpitation

prognosis of Et

normal leukaemic transfomration myelofibrosis also uncommon

PMF what is it?

clonal (malignant abnormal clone) malignant clone stimulates depositiion of fibrin and reticular tissue in bone marrow reactive bone marrow fibrosis - polyclonal fibrosis = scar tissue in bone marrow

presents with PMF?

cytopenia - anemia / thrmobocytopenia thrombocytosis splenomegaly peripheral blood count : disease is in bone marrow

PMF - splenomgelay

massive iliac fossa palpable hepatomgelay as bone marrow becomes fibrotic - haemopoeisis moves to liver and spleen so they expand as bone marrow cells move there hypermetabolic disease

blood film of PMF

tear drop poikilocytes giant platelets

bone marrow finding in PMF

dry tap as bone marrow is replaced by reticulin or collagen fibrosis

bad prognostic signs of myelofibrosis

cytoreductive therapy would worsen the anemia / neutropenia inhibitive drug - jak2 inhibiotr not that good allogenic SCT - potentially curative but so dangerous

primary myelofibrosis treatment 2

ruxolitinib JAK2 inhibitor allogenic SCT high risk eligible cases reserved splenectomy for symptomatic relief- worsens condition splenomegaly is painful but they need erythropoeisis

CML philadelphia chromosome?

radiation exposure risk factor acquired genetic change

CML presents?

hypermetabolic lethargy thrombotic event bruising bleeding

what thrombotic event can CML present with?

monocular blindness CVA retinal artery vein

exam findinga of cml

massive hepatomegaly but no lymphadenopathy is CML

massive hepatomgelay with generalised lymphadenopathy is what ?

an indolent lymphoma

FBC leucocytosis ?

Hb and platelets well preserved / raised leucocytosis 50-500 x 10^9/L

blood film CML

neutrophilia meylocytes basophilia

biphasic peak?

most mature cells - granulocytes normal in bone marrow not normal in peripherla

t(9,22)

9 translocates to 22

abl is a

tyrosine kinase- abl is overexpressed bcr - housekeeping

clinical course of CML

imatinib is the droooooog

assessing response / monitor therapy

haematological response cytogenic - 20 metaphases at diagnosis most sensitive way is to look at BCR-ABL >10%,1%,0.1%

CML, myelofibrosis diseases cause massive

hepato-splenomegely with no lymphadenopathy