Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Medical Studies 1 > 11.6 Chronic Myeloid Leukaemia & Overview of Myeloproliferative Neoplasms & Aplastic Anaemia > Flashcards

11.6 Chronic Myeloid Leukaemia & Overview of Myeloproliferative Neoplasms & Aplastic Anaemia Flashcards

1
Q

Briefly summarise chronic myeloid leukaemia

A
  • Unregulated proliferation of myeliod cells in bone marrow
  • Increased mature granulocytes (mostly neutrophils) in blood
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What translocation mutation causes Chronic Myeloid Leukaemia? What is it called?

A
  • Translocation of long arms of chromosomes 9 and 22.
  • Called “Philadelphia Chromosome”
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Who is more at risk for Chronic Myeloid Leukaemia: Men or women?

A

Men

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Describe how production of a Philadelphia Chromosome leads to uncontrolled cell proliferation

A
  • On normal Chromosome 9, ABL gene is regulated by an end cap
  • When translocated to Chromosome 22 alongside the BCR promoter, this control is lost.
  • This causes uncontrolled proliferation, cell adherence, and downregulation of apoptosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Chronic Myeloid Leukaemia is frequently asymptomatic, but can sometimes present with symptoms. What are some common symptoms?

A
  • Constitutional Sx: fatigue, weight loss
  • Extramedullary haematopoiesis: splenomegaly
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are some rarer symptoms of Chronic Myeloid leukaemia (i.e. not splenomegaly)?

A
  • Leukostasis -> dypsnoea, headache, visual disturbances
  • CVA, MI, DVT
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is leukostasis

A

The formation of white blood cell plugs in microvasculature

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

CBE/blood smear findings in chronic myeloid leukaemia

A
  • Neutrophilia
  • <10% blasts in circulation
  • Basophilia and eosinophilia
  • Thrombocytosis
  • normocytic/chromic anaemia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Expected bone marrow biopsy findings in chronic myeloid leukaemia

A
  • Hypercellularity
  • Normal/slightly elevated marrow blast %
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Expected karyotype findings in CML

A

Presence of philadelphia 9-22 translocation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the gold-standard test for chronic myeloid leukaemia? How does it work?

A
  • Reverse transcriptase PCR
  • Convert RNA to DNA
  • Amplify specific sections of DNA to test for presence of BCR-ABL gene
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

How can Fluorescent in-situ hybridisation be used to identify the BCR-ABL gene

A
  • Assign a different coloured probe to each of them
  • If the colours overlap to form a new colour, they are together, and the translocation is present
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Expected survival of chronic/accelerated/blast phase leukaemia

A
  • Chronic: 4-6 years
  • Accelerated: Up to 1 year
  • Blast phase: 3-6 months
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

How do tyrosine kinase inhibitors help with CML?

A
  • Block substrate from BCR-ABL proteins
  • Prevents downstream signalling
  • Cell proliferation/apoptosis is unaffected
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What characterises polycthemia vera?

A

Increased RBC level, INDEPENDENT OF EPO LEVEL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What mutation causes polycythemia vera?

A

JAK2 mutation

17
Q

What reactive causes must be excluded before we can diagnose essential thrombocytosis?

A
  • Inflammation
  • Splenectomy
  • Iron deficiency anaemia
18
Q

What mutations are known to occur alongisde essential thrombocytosis?

A
  • JAK2
  • CALR
  • MPL
19
Q

Are polycythemia vera and essential thrombocytosis more common in men or women?

20
Q

Describe myelofibrosis

A
  1. Increased clonal megakaryocyte proliferation
  2. Excess fibroblast growth factor
  3. Marrow fibrosis and extramedullary haematopoiesis
21
Q

Which demographic is most likely to get myelofibrosis?

A

Men >50 years old

22
Q

What does bone marrow biopsy look like for myelofibrosis

A

“cellular streaming”

23
Q

What does bone marrow biopsy look like for essential thrombocytosis?

A

Large numbers of poikilocytotic megakaryocytes

24
Q

What is the JAK2 gene responsible for? What can JAK2 mutation cause?

A
  • JAK2 encodes for cytoplasmic tyrosine kinase
  • Mutation leads to hypersensitivity to cytokines and EPO-independent erythropoiesis
25
Q

Myelodisplastic syndromes are characterised by:

A
  • Cytopenias
  • Dysplasia in one or more lineages
  • Ineffective haematopoiesis
26
Q

What is the maximum bone marrow blast percentage for myelodysplassia. What is it called if this is exceeded?

A
  • Cutoff is <20%
  • If exceeded, becomes acute myeloid leukaemia
27
Q

In what % of myelodysplasia cases do we see recurrent genetic abnormalities/

28
Q

What is aplastic anaemia? What characterises it?

A
  • Bone marrow failure; normal haematopoiesis inadequate
  • Characvterised by peripheral cytopenia and bone marrow hypoplasia
29
Q

List some ways in which chemical and physical damage can cause aplastic anaemia

A
  • Cytotoxic drugs
  • Radiation
  • Benzene
30
Q

List some ways in which immune destruction can cause aplastic anaemia

A
  • Idiopathic
  • Eosinophilic fasciitis
31
Q

List one way in which constituional genetic defects can cause aplastic anaemia

A
  • Telomere diease

Medical Studies 1 (90 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions