Haem: CML and Myeloproliferative disorders Flashcards
What is the difference between acute and chronic leukaemia
Chronic - Cells can still differentiate and will retain their function and will be able to fight infections
Acute - Lose their ability to differentiate and will be immunocompromised
What is polycythaemia
Raised Hb and raised haematocrit
What can be the types of polycytaemia and what do they mean?
Relative - Lack of plasma, which makes Hb and Haematocrit look high
True - Excess RBC - May be due to increased EPO (Secondary polycythaemia) or Primary polycythaemia vera
What can be the causes of true secondary polycythaemia
Appropriate - High altitude, hypoxic lung disease, cyanotic heart disease, high affinity Hb
Inappropriate - Renal disease, uterine myoma, tumours
How would the proliferation and differentiation be in myeloproliferative disorders
Proliferation increased and differentiation preserved
How can myeloproliferative disorders be classified
Philadelphia chromosome positive - CML
Negative - Polycythaemia vera, essential thrombocyhtaemia, Primary myelofibrosis
How does the JAK 2 mutation cause MPD
JAK 2 mutation causes the JAK2 signalling pathway to be constitutively active so that there is an EPO response even in the absence of EPO
In which diseases are JAK2 mutations found
Polycythaemia vera, essential thrombocythaemia and primary myelofibrosis
What other gene mutation is found in essential thrombocythaemia and primary myelofibrosis
Calreticulin
How is MPD diagnosed
Clinical features
FBC + Bone marrow biopsy
EPO levels
Mutation testing
What would the features of PV be
High Hb and high HCT
Hyper viscosity - Headaches, light headedness, stroke, visual disturbance, fatigue, dysnpnoea
Aquagenic pruritis
Peptic ulcer
How to treat PV
Venesection
Cytoreductive therapy hydroxycarbamide
Aspirin
What is essential thrombocythaemia
Excess platelets
How does ET present?
Thrombosis DVT PE Bleeding Headaches, dizziness Splenomegaly
How to treat ET
Aspirin
Hydroxycarbamide
Anagrelide
What is PMF
Fibrosis of the bone marrow
How does PMF present
Anaemia or thrombocytopaenia Thrmobocytosis Massive splenomegaly Budd Chiari syndrome - Hepatomegaly Weight loss Fatigue and dyspnoea Night sweats Hyperuricaemia
What would you find on blood film for PMF
Leucoerythroblastic picture
Tear drop poikilocytes
Giant platelets
Megakaryocytes
Extramedullary haemopoiesis in spleen and liver
What you find on bone marrow for PMF
Dry tap
Increased reticulin or collagen fibrosis
Prominent megakaryocyte hyperplasia
What is CML
Philadelphia chromosome positive MPN
How does CML present
Bruising, bleeding, lethargy Massive splenomegaly Hb and platelets preserved or raised Massive leucocytosis Neutrophils and myelocytes and basophils in blood film
What is BCR
Housekeeping gene that is constitutively expressed
What is the main problem in CML
aberrant expression of an ABL fusion oncogene
What drug is sued to treat CML
imatinib
