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Stage 2: Cancer and Clinical Genetics > Chronic Leukaemias > Flashcards

Chronic Leukaemias Flashcards

1
Q

What is the commonest leukaemia?

A

Chronic lymphocytic leukaemia

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2
Q

What are risk factors for CLL?

A
  • Trisomies e.g. Down’s syndrome

- Del17p13 (deletions)

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3
Q

What are red flag symptoms of CML?

A
  • Night sweats
  • Weight loss
  • Fever
  • Fatigue
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4
Q

What are symptoms of CLL?

A
  • Often asymptomatic

- May be anaemic, infection-prone or have weight loss, sweats, anorexia if severe

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5
Q

What are signs of CLL?

A
  • Lymphadenopathy - enlarged, rubbery, non tender nodes
  • Hepatomegaly
  • Splenomegaly
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6
Q

What will you see on blood tests in CLL?

A
  • Low platelets
  • Haemolytic anaemia (autoimmune)
  • Increased lymphocytes
  • Decreased neutrophils
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7
Q

What would you see on blood film in CLL?

A

Smudge/smear cells

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8
Q

How do you diagnose CLL & CML?

A

BM biopsy

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9
Q

Which infection can be commonly seen in CLL?

A

Herpes zoster

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10
Q

What are complications of CLL?

A
  • Diffuse large B cell lymphoma (DLBL) - aggressive lymphoma (Richter’s syndrome)
  • Autoimmune haemolysis
  • Increased infection due to hypogammaglobulinaemia (low IgG)
  • Marrow failure
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11
Q

What staging is used in CLL?

A

Rai staging

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12
Q

What other investigation can you do in all leukaemias?

A

Immunophenotyping + molecular/cytogenic analysis

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13
Q

What is the first line treatment for CLL?

A

Chemo + targeted - FCR (fludarabine, cyclophosphamide, rituximab) OR venetoclax ± steroids ± radiotherapy ± stem cell transplantation

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14
Q

What happens in chronic leukaemias?

A
  • Cells mature partly but not functioning completely
  • Not as obvious as acute - cells can look quite normal but they are not
  • Cells survive longer than normal cells so they gradually crowd out normal cells - harder to fight infection
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15
Q

How is the onset and progression of CLL?

A

Insidious gradual onset - people can live with it for years

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16
Q

What is the hallmark of CLL?

A

Progressive accumulation of a malignant clone of functionally incompetent cells

17
Q

What type of patients get CML?

A

40-60 years, male predominance

18
Q

What is the main risk factor for CML present in > 80% of patients?

A

Philadelphia chromosome (BCR-ABL gene)

19
Q

What is CML?

A

Uncontrolled clonal proliferation of myeloid (granulocytic) cells at different stages of differentiation

20
Q

What are symptoms of CML?

A
  • Chronic & insidious - weight loss, night swears, fatigue, fever
  • Features of gout (due to purine breakdown)
  • Bleeding (platelet dysfunction)
  • Abdominal discomfort (splenic enlargement)
  • 30% detected by change
21
Q

What are the signs of CML?

A
  • Splenomegaly (> 75%) - often massive
  • Hepatomegaly
  • Anaemia
  • Bruising
22
Q

What is a complication of CML?

A

Progression to AML (blast crisis/transformation)

23
Q

How do you treat CML?

A

Imatinib (BCR-ABL tyrosine kinase inhibitor) - targeted ± BMT

24
Q

What would you see on blood tests for CML?

A
  • Increased WCC (often > 100) (myeloid cells)
  • Low or normal Hb
  • Platelets variable
  • Increased urate
  • Increased B12
25
Q

What would you cytogenic analyse for Philadelphia chromosome?

A

Blood or bone marrow

26
Q

What are the 3 myeloid neoplasms (clonal disorders of haematopoeisis)?

A

1) Myeloproliferative neoplasms
2) Myelodysplastic syndrome
3) Acute myeloid leukaemia

27
Q

What is leukocytosis?

A

Lots of blast cells in the bone marrow

28
Q

What is the key feature of leukaemia?

A

Leukocytosis

29
Q

What is myeloproliferative neoplasms?

A
  • Too many morphologically normal myeloid cells - uncontrolled growth of cells derived from myeloid lineage i.e. RBCs, platelets, innate immune cells
  • These are mature cells so their disease course is typically chronic
  • i.e. polycythaemia e.g. polycythaemia rubra vera
30
Q

What is myelodysplastic syndrome?

A

Morphologically abnormal cells due to issues with maturation down the myeloid pathway

31
Q

What are risk factors for myelodysplastic syndrome?

A
  • Smoking
  • Chemotherapy
  • Lead and mercury exposure
32
Q

What can myelodysplastic syndrome develop into?

A

Acute myeloid leukaemia

33
Q

What is polycythaemia rubra vera an example of?

A

Myeloproliferative neoplasm

34
Q

What age group typically get CLL?

A

Elderly

Stage 2: Cancer and Clinical Genetics (18 decks)

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