Chronic myeloproliferative disorders and chronic myeloid leukaemia Flashcards
Chronic Myeloproliferative Disorders
- Myeloid progenitor stem cell disorders of the bone marrow
- develop into AML in ~10%
Polycythaemia Vera (PV)
- Increased RBC’s
- All ages, peak = 50-70
Clinical features of PV
- Itching
- Gout (in RBC turnover = increased uric acid)
- Gangrene (increased thrombosis)
- Splenomegaly
Diagnosis of PV
- Persistent increased Hb
- Test for JAK2 mutation
- ## Low EPO levels
Treatment of PV
- Aspirin for thrombosis risk
- Venesection
- Good prognosis but risk of AML
Essential Thrombocytosis (ET)
- Increased platelet count causing clusters in the bone marrow
- Distinguished from reactive thrombocytosis = platelets released by stress
Diagnosis of ET
- Persistent platelets >450
- Test for JAK2 and CALR
Treatment of ET
- Assess thrombosis risk, antiplatelet treatment
- Cytoreduction - hydroxycarbamide
Idiopathic Myelofibrosis (IMF)
- Bone marrow scarring
- Ineffective cell production causing low blood count/cytopenia and splenomegaly
Clinical features of IMF
- Pancytopenia - Low RBCs, white blood cells and platelets
- Massive splenomegaly
- Night sweats, fever, weight loss
Diagnosis of IMF
- Tear shaped RBC’s
- Bone marrow biopsy
- JAK2 mutation or CALR mutation
Treatment of IMF
- JAK2 inhibitors
- Bone marrow transplant and radiotherapy to shrink spleen
- Prognosis is poor with 5 year mean survival
Causes of Splenomegaly = CHICAGO
C = cancer (of the spleen H = haematological – MF, CML, CLL I = infection - schistosomiasis, malaria, leishmaniasis, EBV C = congestion – cirrhosis/portal HT A = autoimmune – haemolysis, SLE G = glycogen storage disorders O = other – amyloid, sarcoid
Chronic Myeloid Leukaemia
- neoplasm of myeloid progenitor cells causing leucocytosis in the blood
- Presence of myelocytes - shouldn’t usually be in blood
Clinical features of Chronic Myeloid Leukaemia
- Histology = leucocytosis, leucoerythroblastic (immature WBCs), anaemia (low RBCs because too many WBCs)
- Signs = splenomegaly
- Symptoms = abdominal discomfort (due to splenomegaly), fatigue (anaemia), venous occlusion (e.g. DVT), gout (hyperuricaemia), retinal haemorrhages
Aetiology of Chronic Myeloid Leukaemia
- Chr t(9;22) translocation – Philadelphia chromosome
- Excess proliferation within the myeloid lineage
Treatment of Chronic Myeloid Leukaemia
- Chronic phase = Gleevec/imatinib (BCR-ABL TK Inhibitor)
- Acute phase (presents similar to AML) = intensive chemo + BM transplant