MYELOPROLIFERATIVE DISORDERS

Question 1

what are myeloproliferative disorders?

Answer 1

-Clonal haematopoietic stem cell disorders with an increased production of one or more types of haematopoietic cells

with maturation relatively preserved

Question 2

classifications of myeloproliferative neoplasm?

Answer 2

BCR- ABL1 positive

BCR- ABL1 negative

Question 3

example of BCR-ABL1 positive myeloproliferative disorder?

Answer 3

Chronic myeloid leukemia (philadelphia translocation on chromosome 9 and 22)

Question 4

examples of BCR- ABL1 negative myeloproliferative disorders?

Answer 4

-Primary myelofibrosis
-Polycythaemia vera (over production of red cells)
-Essential thrombocythaemia (over production of platelts)

Question 5

what is polycythaemia vera?

Answer 5

BCR- ABL1 negative myeloproliferative neoplasm that causes proliferation of erythroid cell line

Question 6

what are the types of polycythaemia?

Answer 6

-True polycythaemia (polycythemia vera)
-Secondary polycythaemia
-Pseudopolycythaemia

Question 7

examples of secondary polycythaemia?

Answer 7

-chronic hypoxia
-smoking
-COPD
-EPO secreting tumour

Question 8

examples of pseudopolycythaemia?

Answer 8

-dehydration
-diuretic therapy
-obesity

Question 9

what mutation is associated with polycythaemia vera?

Answer 9

JAK 2 mutation

Question 10

Presentation of polycythaemia vera?

Answer 10

-Asymptomatic
-Weight loss, fatigue, sweat, headache
-Splenomegaly
-Gout
-Thrombosis (DVT, AT, TIA, MI)

PV specific: aquagenic itch (itch after shower)

Question 11

in the bloods- what will be increased for polychythaemia vera?

Answer 11

-high Hb/ haematocrit
-Erythrocytosis (true increase in red cell mass)
-Blood viscosity raised (not plasma viscosity)

Question 12

what can polycythaemia rubra vera progress to?

Answer 12

Secondary Acute myeloid leukemia

-potential evolution to myelofibrosis

Question 13

treatment- polycythaemia rubra vera?

Answer 13

-Venesect to haematocrit <0.45 = FIRST LINE
-Aspirin (due to increased risk of thrombosis)
-Cytotoxic oral chemotherapy (e.g. hydroxycarbamide)

Question 14

what is essential thrombocytopenia?

Answer 14

BCR- ABL1 negative myeloproliferative disorder

-causes uncontrolled production of abnormal platelets (causing lots of weird thrombosis)

Question 15

how does essential thrombocytopenia present?

Answer 15

-Lots of weird thrombosis (e.g. in toes)
-At high levels can cause bleeding due to acquired Von Willebrand disease

Question 16

investigations done for essential thrombocytopenia?

Answer 16

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

Question 17

what mutations are associated with essential thrombocytosis?

Answer 17

-JAK2 (50-60%)
-CELR celreticulin (25%)
-MPL (5%)

10-20% patients will be triple negative

Question 18

management of essential thrombocytopenia?

Answer 18

1st line= hydroxyurea (hydroxycarbamide)

and aspirin

Question 19

bone marrow appearance- essential thrombocytosis?

Answer 19

Large and lots of megakaryocytes

Question 20

what is primary myelofibrosis?

Answer 20

BCR- ABL1 negative myeloproliferative disorder

-proliferation of haematopoietic stem cell causing bone marrow to be replaced by fibrous tissue

Question 21

what investigation is diagnostic and what would be found for primary myelofibrosis?

Answer 21

bone marrow biopsy:
-Fibrosis
-DRY ASPIRATE (buzz word)

Question 22

presentation of primary myelofibrosis?

Answer 22

Marrow failure:
-anaemia
-bleeding
-infection

Question 23

what would be seen on blood film of someone with primary myelofibrosis?

Answer 23

TEAR DROP shaped RBC

-Leukoperythroblastic film appearances (both neutrophil and RBC precursors in blood)

Question 24

management of myeloproliferative disorders?

Answer 24

if young + fit= stem cell transplant

-supportive care