CML

Question 1

Myeloproliferative Disorders

Answer 1

No block of cell maturation
See the whole maturation series in the peripheral blood
t(9;22) is associated with resistance to all tyrosine kinase inhibitors
Chronic phase: slow, responsive to therapy
Accelerated phase: >10% myeloblasts, >20% basophils in peripheral blood
Blast crisis >20% blasts in bone marrow/peripheral blood
Treated with Imatinib

Question 2

Essential Thrombocythemia

Answer 2

Characterized by sustained thrombocytosis
Leukocytosis is common
50% of patients have a heterozygous JAK2 mutation

Question 3

Polycythemia

Answer 3

Uncontrolled proliferation of the erythroid elements in the bone marrow
May have pancytosis

Question 4

Polycythemia Vera (Primary)

Answer 4

98% of patient are homozygous for JAK2 mutation
Increased WBC, RBC, Hct, Hgb, Plt
Treated with theraputic phlebotomy

Question 5

Secondary Polycythemia

Answer 5

No JAK2 mutation
O2 saturation is decreased
Caused by tissue hypoxia, inappropriate increase in EPO, familial polycythemia, neonatal polycythemia

Question 6

Relative Polycythemia

Answer 6

Patient presents with hypertension, stress, possible nephropathy, usually overweight

Question 7

Primary Myelofibrosis

Answer 7

Myelofibrosis with myeloid metaplasia (MMM)
Characterized by progressive fibrosis of the bone marrow and extrameduallary hematopoiesis in the spleen/liver
50% of patients have JAK2 mutation
See leukoerythroblastic pictures, large platelets, dacryocytes
Bone marrow has increased megakarycotyes, fibrotic, often have a dry tap