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Heme > Lec 14 Myeloproliferative Neoplasms > Flashcards

Lec 14 Myeloproliferative Neoplasms Flashcards

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1
Q

What is the philadelphia chromosome?

A

translocation t(9;22) –> sign of chronic myelogenous leukemia

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2
Q

What is effect of philadelphia chromosome?

A

have bcr-abl hybrid fusion gene

causes constitutive tyrosine kinase activity + turns on oncogenic signaling pathway

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3
Q

WHat is median age of CML?

A

64 [peak age 45-85]

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4
Q

What do you see in CML clinically?

A
  • uncontrolled proliferation of granulocytes –> high neutrophils, metamyelocytes, basophils

splenomegaly

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5
Q

What is the triphasic course of CML?

A
  • chronic phase
  • accelerated phase
  • blast crisis –> AML/ALL
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6
Q

What are myelodysplastic syndromes?

A

clonal stem cell disorders characterized by refractory cytopenias

at risk for evolving to AML/ALL

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7
Q

What are risk factors for MDS?

A
  • ionizing radiation
  • benzene
  • cigarette smoke
  • chemo drugs
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8
Q

What are clinical manifestations of MDS?

A

pancytopenia –> anemia, bleeding, infection

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9
Q

What do you see on peripheral blood smear with MDS?

A
  • hypogranulation and hyposegmentation of neutrophils [pelger huet cells]
    macrocytosis of RBCs
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10
Q

What is treatment for MDS?

A
  • transfusion of blood/platelets
  • 5 azacytidine + decitabine
  • allogenic stem cell transplant
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11
Q

What is important feature of the myeloproliferative neoplasms?

A

have excessive proliferation but normal differentiation and maturation of cells

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12
Q

What is the pathogenesis of philadelphia chromosome in CML?

A
  • ATP binding to bcr-abl oncoprotein –> phosphorylation of tyrosine residues
  • decreased adhesion of progenitors to bone marrow stroma
  • growth factor independent proliferation
  • resistance to apoptosis
  • porliferative growth advantage
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13
Q

How does CML usually present?

A

often asymptomatic w/ incidental high WBC on routine CBC

or can present with fevers, night sweats, bone pain, LUQ pain, early satiety secondary to splenomegaly

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14
Q

What happens in the chronic phase of CML?

A
  • granulocytosis
  • thrombocytosis
  • basophilia
  • splenomegaly secondary to extramedullary hematopoiesis

lasts 3 years

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15
Q

What happens in the progressive phase of CML?

A

after 3 years in chronic phase –> progressive increase in blood counts and splenomegaly; cytogenetic abnormalities occur

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16
Q

What happens in blastic phase of CML?

A

becomes indistinguishable form acute leukemia –> majority transform to AML; usually rapidly fatal

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17
Q

What do you see on CBC in CML?

A

granulocytosis
thrombocytosis
basophilia
normal or decreased hemoglobin

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18
Q

What do you see on peripheral blood in CML?

A

granulocytes at all stage of maturation = looks like bone marrow aspirate; increased megakaryocytes

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19
Q

What do you see on FISH in CML?

A

presence of bcr-abl fusion gene

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20
Q

What is differential diagnosis of CML?

A
  • reactive granulocytosis –> absence of philadelphia chromosome, high LAP in leukamoid rxn
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21
Q

What is treatment for CML?

Study These Flashcards
A

imatinib = inhibitor of bcr-abl tyrosine kinase

interferon alpha

hydroxyurea

22
Q

What is usually the reason for resistance in CML?

Study These Flashcards
A

mutation in ABL kinase domain [T315I]

23
Q

What is treatment for resistant CML?

24
Q

What is only curative treatment for CML?

Study These Flashcards
A

allogenic hematopoietic stem cell transplant

25
How do you diagnose CML?
FISH or cytogenetic analysis or RT-PCR
26
What is normal function of JAK?
intermediate between membrane receptors and signaling molecules; become phosphorylated/activated by growth factors --> in turn activate STAT transcription factors --> increase survival, proliferation, differentiation
27
What disease associated with JAK2 mutation?
- polycythemia vera in 100% | - essential thrombocytosis and myelofibrosis in 30-50%
28
What is polycythemia vera?
clonal disorder of autonomous RBC proliferation --> increased hct, RBC, granulocytosis, thrombocytosis, splenomegaly
29
What is spurious polycythetmia?
presence of high hematocrit resulting from decreased plasma volume [RBC volume is normal] in pts on diuretic therapy or in smokers
30
What EPO levels in primary vs secondary polycythemia?
low in primary; high in secondary
31
Who gets polycythemia vera?
avg age 60
32
What are clinical features of polycythemia vera?
- dizziness, headache, tinnitus from hyperviscosity secondary to increased hematocrit - post bath itching - increased basophils
33
What are some complications of polycythemia vera?
erythromelalgia --> seever burning pain and reddish/bluish coloration due to episodic blood clots in vessels of extremities venous and arterial thrombosis --> budd chiari transofrmation to AML thrombosis
34
high or low or normal MCV in polycythemia vera?
low MCV secondary to iron deficiency
35
What is treatment for polycythemia vera?
anti-platelet agents =
36
What chromosomes associated with most common cytogenetic abnormalities in polycythemia vera?
chr 9 and chr 20
37
What is characteristic finding in polycythemia vera?
endogenous erythroid colonies
38
What are some causes of secondary polycythemia?
- hypoxia - abnormal hemoglobin [high affinity] - EPO producing tumors/cysts
39
What are some clinical features of primary polycythemia that distinguish it from secondary?
secondary does not have: splenomegaly, leukocytosis, thrombocytosis, icnreased risk thrombosis/bleeding secondary = has high EPO
40
What is treatment for polycythemia vera?
- phlebotomy to decrease blood viscosity | - myelosuppression: hydroxyurea, anegrelide, aspirin
41
Who gets essential thrombocythemia?
female > male | median age 60
42
What is pathogenesis of essential thrombocythemia?
specific for overproduction of abnormal platelets; have JAK2 mutation in 50%
43
What are clinical features of essentail thrombocytsosis?
- thrombocytosis [> 1 mil platelets] - splenomegaly - thrombosis - bleeding - transofrmation to myelofibrosis or polycythemia vera - transofrmation to AML
44
What is primary myelofibrosis?
clonal progressive fibrosis of the bone marrow; extramedullary hematopoiesis; massive hepatosplenomegaly
45
What is pathoegensis of primary myelofibrosis?
initially have high granulocyte and platelet counts --> develop mbone marrow failure and get pancytopenia
46
What causes the marrow fibrosis in primary myelofibrosis?
stimulation of marrow fibroblasts by platelet dervied transforming growth factor beta produced by neoplastic megakaryoctyes
47
What are the clinical manifestations of primary myelofibrosis?
anemia, thrombocytopenia, splenomegaly
48
What do you see on peripheral smear in primary myelofibrosis?
teardrop shaped RBCs, nucleated RBCs
49
What is significant complication of PMF?
can develop acute leukemia
50
Does essential thrombocytosis progress to acute leukemia?
not very often

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