What is the myeloid lineage?
Red blood cell
What is the difference between chronic myeloid leukaemia and acute myeloid leukaemia?
Differentiation and maturation PRESERVED in chronic disease
Which mutation is associated with chronic myeloid leukaemia?
CML is BCR-ABL1 (positive / negative).
CML = BCR-ABL1 positive
What is a normal, secondary cause for a rise in blood components?
in response to infection usually
Which blood components can increase in myeloproliferative disorders?
White cells (basophils/eosinophils is especially significant)
Which organ can enlarge in myeloproliferative disorders?
Increased cell breakdown
What is a risk seen in hyperviscosity secondary to raised cell counts?
Chronic ___ causes a secondary polycythaemia - why?
Chronic hypoxia (e.g sleep apnoea, COPD)
Persistent EPO release by the kidneys
What is the course of untreated chronic myeloid leukaemia?
1. Chronic phase for 3-5 years, maturation intact
2. Accelerated phase - maturation starting to fail
3. Blast crisis and death - more closely resembling an acute leukaemia
What are some clinical features of CML?
Hypermetabolism - cachexia
How is suspected CML investigated?
Bone marrow biopsy
An increase in which specific blood components strongly suggest CML?
not normally found in large numbers
What might be misdiagnosed as CML based on blood changes?
Reactive changes due to infection
Which genetic mutation is commonly found in CML?
Unbalanced chromosome 22 translocation
'BCR-ABL' gene on the Philadelphia chromosome
BCR-ABL mutations on the Philadelphia chromosome affect which protein?
What is a tyrosine kinase inhibitor used to treat CML?
Imatinib is a ___ ___ inhibitor which massively increases life expectancy in which disease?
tyrosine kinase inhibitor
CML is positive for which mutation?
Philadelphia chromosome (22)
What is erythromelalgia?
Which group of diseases is it a feature of?
Hot, swollen, red, painful digits due to blood stasis
Caused by HYPERVISCOSITY of blood
In which disease does haemoglobin and haematocrit increase abnormally?
What is primary polycythaemia called?
Polycythaemia rubra vera
Which genetic mutation is implicated in polycythaemia rubra vera?
What causes secondary polycythaemia?
EPO-secreting renal tumours
What is pseudopolycythaemia?
Appearance of raised Hb / haematocrit which is actually due to a reduced plasma volume
What causes pseudopolycythaemia?
Dehydration / Diuretic therapy
Pseudopolycythaemia and ___ polycythaemia mean the same thing.
What are some symptoms of primary polycythaemia?
Itch (caused by warm water)
Which genetic mutation is screened for in polycythaemia rubra vera?
JAK2 mutations are seen in 95% of patients with ___ ___ ___.
polycythaemia rubra vera (primary)