Haem

Question 1

Define chronic myeloid leukaemia

Answer 1

Clonal proliferation of myeloid cells

Question 2

What symptoms would you expect with CML?

Answer 2

B sx
Massive HSM --> discomfort
Bruising and bleeding (plt dysfunction)
Gout
Hyper viscosity

Question 3

What abnormality is frequently identified in CML?

Answer 3

Philadelphia chromosome >8-% CML

Question 4

What is the Philadelphia chromosome?

Answer 4

Reciprocal translocation t(9,22) resulting in constitutive tyrosine kinase activity

Question 5

How would you investigate a patient with suspected CML?

Answer 5

FBC: WCC, Hb and plts
UsEs and serum rate

Bone marrow aspirate- cytogenic analysis

Question 6

What would you expect to find on investigation of CML?

Answer 6

FBC: Very high WCC, esp PMN, basophils and myelocytes
± Reduced Hb and platelets (if in accelerated or blast phase)

UsEs: Raised rate

BM cytogenetic analysis: Ph+ve

Question 7

How would you treat a patient with CML?

Answer 7

Imatinib: Tyrosine kinase inhibitor, haematological response in 90%. 80% 5 year survival

Surgical: Allogeneic SCT if blast cell crisis or TK-refractory

Question 8

Define myelofibrosis

Answer 8

A myeloproliferative neoplasm whereby abnormal haematopoietic production in the bone marrow results in fibrosis of the bone marrow.

Question 9

What is primary myelofibrosis?

Answer 9

Myelofibrosis that is not secondary to polycythaemia vera or essential thrombocythaemia.

I.e. has no identifiable cause

Question 10

What is the aetiology of primary myelofibrosis?

Answer 10

Megakaryocytic clonal proliferation resulting in increased platelet-derived growth factor causing bone marrow scarring (fibrosis)

Results in extramedullary haematopoiesis i.e. in the liver and spleen

Question 11

What group of patients are typically affected by primary myelofibrosis?

Answer 11

The elderly

Question 12

What sx would a patient with primary myelofibrosis complain of?

Answer 12

B sx
Massive HSM
BM failure: Anaemia, infections, bleeding

Question 13

How would you investigate a patient with suspected primary myelofibrosis?

Answer 13

Blood film
FBC

BM aspirate

Genetic analysis

Question 14

What would you see on blood film of a patient with primary myelofibrosis?

Answer 14

Leukoerythroblastic picture with teardrop poikilocytes

Question 15

What would you see on FBC of a patient with primary myelofibrosis?

Answer 15

Cytopenias

Question 16

What would you see on BM aspirate of a patient with primary myelofibrosis?

Answer 16

Dry tap- need a trephine biopsy

Question 17

What genetic mutations are associated with primary myelofibrosis?

Answer 17

JAK2- 50%

Question 18

What is the treatment for primary myelofibrosis?

Answer 18

Supportive: Blood products

Surgery:
Splenectomy
Allogeneic BMT may be curative in younger patients

Question 19

What is the prognosis for primary myelofibrosis?

Answer 19

5 year median survival