Myeloproliferative Disorders Flashcards
(25 cards)
What are myeloproliferative disorders?
Clonal haemopoietic stem cell disorders with increased production of one or more types of haemopoietic cells
What are blood count signs suggesting myeloproliferative disorders?
High granulocyte/Hb/platelet count
Eosinophilia/basophilia
Splenomegaly
In chronic myeloid leukaemia there is proliferation of which cells?
Myeloid cells
Proliferation of myeloid cells leads to increased what?
Granulocytes
What is the course of CML?
Chronic phase with intact maturation lasting 3-5 years then a blast crisis with maturation defect
Give some clinical features of CML
Splenomegaly
Hypermetabolic symptoms (weight loss, fatigue etc.)
Gout
What blood count changes are seen in CML?
Leucocytosis (neutrophilia/eosinophilia/basophilia)
Thrombocytosis
What is the hallmark feature of CML?
Philadelphia chromosome
Philadelphia chromosome occurs when?
There is a reciprocal translocation between chromsomes 9 and 22 causing a short chromosome 22
What gene is caused by a Philadelphia chromosome?
BCR-ABL1
What effect does BCR-ABL1 have?
Produces tyrosine kinase causing abnormal phosphorylation and haematological changes
Give examples of BCR-ABL1 negative myeloproliferative disorders
Essential thrombocythaemia
Polycythaemia rubra vera
Idiopathic myelofibrosis
Give some common features of myeloproliferative disorders
Increased cell turnover - causes gout/fatigue/weight loss
Splenomegaly
Marrow failure
Thrombosis
What are the diagnostic features of polycythaemia rubra vera?
High Hb/haematocrit accompanied by erythrocytosis
In PRV there is a mutation in which gene?
JAK2
Mutational analysis is now part of initial screening for PRV. True/false?
True
Give some clinical features of PRV
MPD features
Headache/fatigue
Itch
What is used to treat PRV?
Venesection (HCT <0.45)
Aspirin
Cytotoxic oral chemotherapy
What occurs in essential thrombocythaemia?
There is uncontrolled production of abnormal platelets
What are the main clinical features of essential thrombocythaemia?
Increased cell turnover
Thrombosis
Bleeding (surgery)
Essential thrombocythaemia has mutations in which genes?
JAK2 (in 50%)
CALR (in those without mutant JAK2)
What is the treatment for essential thrombocythaemia?
Anti-platelet (aspirin) Cytoreductive therapy (hydroxycarbamide)
Give some features of idiopathic myelofibrosis
Marrow failure (anaemia/bleeding)
Splenomegaly (LUQ pain etc.)
Hypercatabolism
How does myelofibrosis appear on blood film?
Tear-drop shaped RBC
