MYELOPROLIFERATIVE DISORDERS Flashcards
what are myeloproliferative disorders?
-Clonal haematopoietic stem cell disorders with an increased production of one or more types of haematopoietic cells
with maturation relatively preserved
classifications of myeloproliferative neoplasm?
BCR- ABL1 positive
BCR- ABL1 negative
example of BCR-ABL1 positive myeloproliferative disorder?
Chronic myeloid leukemia (philadelphia translocation on chromosome 9 and 22)
examples of BCR- ABL1 negative myeloproliferative disorders?
-Primary myelofibrosis
-Polycythaemia vera (over production of red cells)
-Essential thrombocythaemia (over production of platelts)
what is polycythaemia vera?
BCR- ABL1 negative myeloproliferative neoplasm that causes proliferation of erythroid cell line
what are the types of polycythaemia?
-True polycythaemia (polycythemia vera)
-Secondary polycythaemia
-Pseudopolycythaemia
examples of secondary polycythaemia?
-chronic hypoxia
-smoking
-COPD
-EPO secreting tumour
examples of pseudopolycythaemia?
-dehydration
-diuretic therapy
-obesity
what mutation is associated with polycythaemia vera?
JAK 2 mutation
Presentation of polycythaemia vera?
-Asymptomatic
-Weight loss, fatigue, sweat, headache
-Splenomegaly
-Gout
-Thrombosis (DVT, AT, TIA, MI)
PV specific: aquagenic itch (itch after shower)
in the bloods- what will be increased for polychythaemia vera?
-high Hb/ haematocrit
-Erythrocytosis (true increase in red cell mass)
-Blood viscosity raised (not plasma viscosity)
what can polycythaemia rubra vera progress to?
Secondary Acute myeloid leukemia
-potential evolution to myelofibrosis
treatment- polycythaemia rubra vera?
-Venesect to haematocrit <0.45 = FIRST LINE
-Aspirin (due to increased risk of thrombosis)
-Cytotoxic oral chemotherapy (e.g. hydroxycarbamide)
what is essential thrombocytopenia?
BCR- ABL1 negative myeloproliferative disorder
-causes uncontrolled production of abnormal platelets (causing lots of weird thrombosis)
how does essential thrombocytopenia present?
-Lots of weird thrombosis (e.g. in toes)
-At high levels can cause bleeding due to acquired Von Willebrand disease
investigations done for essential thrombocytopenia?
Bloods: high platelets
Rule out CML
-CML will be BCR-ABL1 positive and ET is BCR-ABL1 negative
Bone marrow appearance= large and lots of megakaryocytes
Genetic teting= JAK2, CALR celreticulin, MPL
what mutations are associated with essential thrombocytosis?
-JAK2 (50-60%)
-CELR celreticulin (25%)
-MPL (5%)
10-20% patients will be triple negative
management of essential thrombocytopenia?
1st line= hydroxyurea (hydroxycarbamide)
and aspirin
bone marrow appearance- essential thrombocytosis?
Large and lots of megakaryocytes
what is primary myelofibrosis?
BCR- ABL1 negative myeloproliferative disorder
-proliferation of haematopoietic stem cell causing bone marrow to be replaced by fibrous tissue
what investigation is diagnostic and what would be found for primary myelofibrosis?
bone marrow biopsy:
-Fibrosis
-DRY ASPIRATE (buzz word)
presentation of primary myelofibrosis?
Marrow failure:
-anaemia
-bleeding
-infection
what would be seen on blood film of someone with primary myelofibrosis?
TEAR DROP shaped RBC
-Leukoperythroblastic film appearances (both neutrophil and RBC precursors in blood)
management of myeloproliferative disorders?
if young + fit= stem cell transplant
-supportive care
