Myeloproliferative Disorders Flashcards
A neoplastic proliferation of mature cells of myeloid lineage usually seen in late adulthood…
Myeloproliferative disorders
What occurs to the WBC count and bone marrow with myeloproliferative disorders?
Increased WBC count and hypercellular bone marrow—caused by increase in all the cells of the myeloid lineage
Patients who have a myeloproliferative disorder are at an increased risk of developing what complication due to the high cellular turnover?
Hyperuricemia leading to gout
A disease that is caused by a neoplastic proliferation of mature myeloid cells, especially granulocytes, and is characterized by an increase in basophils…
Chronic myeloid leukemia (CML)
What is the driver mutation seen with chronic myeloid leukemia (CML)?
T(9;22)—Philadelphia chromosome
What is caused by the 9;22 translocation seen with chronic myeloid leukemia (CML)?
BCR-ABL fusion protein, which increases tyrosine kinase activity
What is the first line of treatment for chronic myeloid leukemia?
Imatinib—a tyrosine kinase inhibitor
What does enlarging of the spleen suggest with respect to chronic myeloid leukemia?
A progression to accelerated phase of the disease and the transformation to acute leukemia will follow shortly after
What 2 leukemias can chronic myeloid leukemia transform to?
AML or ALL
Why can chronic myeloid leukemia transform into AML or ALL?
The mutation is in the pluripotent stem cell, therefore the myeloid stem cell or lymphoid stem cell can be affected
What 3 characteristics distinguish chronic myeloid leukemia from a leukemoid reaction?
Negative leukocyte alkaline phosphatase (LAP) stain—No inflammation with CML
Increased basophils with CML
9;22 translocation with CML
A neoplastic proliferation of mature myeloid cells, Particularly RBCs…
Polycythemia vera
What other cells, besides RBCs, are increased with polycythemia vera
Granulocytes and platelets
What mutation is associated with polythemia vera?
JAK2 kinase mutation
What are the 3 myeloporliferative disorders that are associated with the JAK2 kinase mutation?
Polycythemia vera
Essential thrombocythemia
Myelofibrosis
What are the 4 major clinical signs seen with polycythemia vera?
Blurry vision and HA
Increased risk of venous thrombosis
Flushed face due to congestion
Itching, especially after bathing
What is the cause of itching after bathing seen with polycythemia vera?
Histamine release from increased mast cells
What are the treatment options for polycythemia vera?
Phlebotomy
Hydroxyurea—second line
What occurs if polycythemia vera is not treated?
Death—within a year
How is polycythemia vera distinguished from reactive polycythemia with respect to EPO levels and SaO2 levels?
In PV—EPO levels are decreased and SaO2 is normal
Reactive polycythemia due to high altitude or lung disease—SaO2 is low and EPO is increased
Reactive polycythemia due to ectopic EPO production from renal cell carcinoma—SaO2 is normal and EPO is high
Neoplastic proliferation of mature myeloid cells, particularly platelets?
Essential thrombocythemia
What other 2 cells are increased with essential thrombocythemia?
RBCs
Granulocytes
What mutation is associated with Essential Thrombocythemia?
JAK2 kinase mutation
Patients with essential throbocythemia are at an increased risk of developing what?
Increased risk of bleeding and/or thrombosis
Is there an increased risk of hyperuricemia or gout with essential thrombocythemia?
NO
Neoplastic proliferation of mature myeloid cells, particularly megakaryocytes…
Myelofibrosis
What mutation is associated with myelofibrosis?
JAK2 kinase mutation
What causes marrow fibrosis seen with myelofibrosis?
Megakaryocytes producing excess platelet-derived growth factor (PDGF)
What are the 3 major clinical features seen with myelofibrosis?
Splenomegaly
Leukoerythroblastic smear
Increased risk of infection, thrombosis and bleeding
Patient with myelofibrosis are at an increased risk of developing what 3 major complications?
Infection
Thrombosis
Bleeding
What are the characteristic findings seen on the blood smear of a patient with myelofibrosis?
Tear-drop RBCs
Nucleated RBCs
Immature granulocytes
