Myeloid malignancies Flashcards
what is the presentation of acute myeloid leukaemia?
bone marrow failure
- anaemia
- thrombocytopenia
- infection because of neutropenia
what are the laboratory features in CML?
high WCC
high platelet count
anaemia
blood film shows white cell differentiation with increased basophils
what gene is responsible for CML and on what chromosome is it found?
BCR-ABL fusion gene found on philadelphia chromosome t(9;22)
found in bone marrow and blood cells
what are the main management options for CML?
tyrosine kinase inhibitors
- imatinib
- dasatinib
- busitinib
- ponatinib
in the treatment of Chronic Myeloid Leukaemia, what does the tyrosine kinase inhibitors inhibit?
BCR-ABL (part of the philadelphia chromosome)
what is the presentation of Chronic myeloid Leukaemia?
anaemia splenomegaly weight loss hyperleukostasis - fundal haemorrhage - venous congestion - altered consciousness - respiratory failure gout
what are the 3 main myeloproliferative neoplasms?
polycythaemia vera
essential thrombocythaemia
idiopathic myelofibrosis
what mutations may be present in patients with essential thrombocythaemia?
CALR S (25%) - caltreculin JAK2 V617F
what are the clinical features of poycthaemia vera?
headaches itch vascular occlusion thrombosis TIA, stroke splenomegaly
what are the laboratory features of polycythaemia vera?
haemoglobin increased haematocrit increased raised WCC and platelets raised uric acid (causes gout) increase in red cell mass when blood vol is measured
what is the treatment of polycythaemia vera?
venesection (blood letting)
aspirin
hydroxycarbamide / alpha interferon
(decrease platelets for stoke risk)
what are the possible complications associated with polycythaemia vera?
main concern is stroke and arterial/venous thrombosis if poly controlled
bone marrow failure from development of secondary myelofibrosis
transformation to AML
what is the treatment for essential thromboythaemia?
aspirin and hydroxycarbamide
what are the symptoms of essential thrombocythaemia?
arterial and venous thrombosis digital ischameia gout headache mild splenomegaly
what cells are predominantly found on bone marrow biopsy of acute leukaemia?
blast cells
what sort of infections are patient with acute myeloid leukaemia prone to and why?
bacterial and fungal due to low neutrophil count (neutropenia)
what investigations would you carry out for suspected acute myeloid leukaemia?
blood count and blood film
bone marrow aspirate/biopsy
cytogenetics (karyotype) and immunophenotyping of leukaemia blasts
CSF examination if symptoms or children
in a bone marrow aspirate, how many blast cells would occupy the biopsy to diagnose AML and ALL?
> 20% blast cells
what is the mainstay of treatment to achieve remission of AML?
chemotherapy
- daunorubin & cytosine arabinoside (DA)
allogenic stem cell transplantation
what is all-trans retinoid acid (ATRA) and arsenic trioxide (ATO) used to treat?
low risk acute promyelocytic leukaemia
