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JAK2 Mutation and Its Role
How does the JAK2 mutation affect the JAK/STAT signaling pathway?
It leads to constitutive activation independent of EPO.
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Chronic Myeloid Leukemia (CML) Laboratory Findings
What is a common laboratory finding in CML related to uric acid?
Hyperuricemia and uricosuria, with a risk of secondary gout and uric acid stones.
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WHO Classification of MPNs
What are the main types of MPNs according to the WHO classification?
Chronic myeloid leukemia (CML), Polycythemia vera (PV), Essential (primary) thrombocythemia (ET), and Primary myelofibrosis (PMF).
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Chronic Myeloid Leukemia (CML) Laboratory Findings
How is the LAP score calculated?
Count 100 neutrophils and bands, score based on color intensity, and sum the scores.
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Chronic Myeloid Leukemia (CML) Laboratory Findings
What substrate is used in the LAP score test?
Naphthol-phosphate substrate and diazo dye at an alkaline pH.
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Laboratory Findings in Essential Thrombocythemia
What is the typical white blood cell (WBC) finding in Essential Thrombocythemia (ET)?
WBCs are generally elevated, showing neutrophilia with a slight left shift.
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Laboratory Findings in Essential Thrombocythemia
What are the characteristics of platelets in ET?
Platelets are generally 'normal' looking but can vary in size, shape, and granulation, with some giant platelets and sometimes in clusters.
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Complications and Symptoms of MPNs
What complications can arise from Essential Thrombocythemia?
Complications include hemorrhage (bleeding tendencies due to abnormal platelets) or thrombosis (usually with platelets > 2000 x 10^9/L).
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Essential Thrombocythemia (ET) Characteristics
What mutations are commonly associated with Essential Thrombocythemia?
Most mutations described in Polycythemia Vera (PV) also occur in ET but usually at a lower frequency.
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Chronic Myeloid Leukemia (CML) Laboratory Findings
What happens to the number of mature neutrophils during the blast crisis?
There is a decrease in the number of mature neutrophils.
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Primary Myelofibrosis (PMF) Pathophysiology
What causes the formation of teardrop poikilocytes in PMF?
Narrowing and rigidity of splenic sinusoids.
p.5
JAK2 Mutation and Its Role
What role do JAK2 proteins play in relation to cytokines?
They are activated following binding of cytokines, leading to cell proliferation and differentiation.
p.8
Polycythemia Vera (PV) Diagnosis Criteria
What other blood conditions are associated with Polycythemia Vera?
Leukocytosis (>12) and increased platelets (>400).
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Primary Myelofibrosis (PMF) Pathophysiology
What happens to normal bone marrow tissue in PMF?
It is gradually replaced with fibrous scar-like material (Fibrosis).
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Laboratory Findings in Essential Thrombocythemia
What is the typical red blood cell (RBC) finding in ET?
RBCs are normal or slightly decreased, with rare nucleated red blood cells (NRBC).
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Essential Thrombocythemia (ET) Characteristics
What is a key characteristic of Essential Thrombocythemia (ET)?
Marked and persistent thrombocytosis.
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Complications and Symptoms of MPNs
What symptoms may patients with Essential Thrombocythemia experience?
Headache, dizziness, throbbing/burning in hands & feet, mucosal bleeding, seizures, and myocardial infarction.
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Chronic Myeloid Leukemia (CML) Laboratory Findings
What is the increase in circulating blast count during the blast crisis?
Increase from 10% to 19%.
p.1
JAK2 Mutation and Its Role
Which MPNs are associated with the JAK2 mutation?
Polycythemia vera (PV), Essential thrombocythemia (ET), and Primary myelofibrosis (PMF).
p.1
JAK2 Mutation and Its Role
What is a common characteristic of PV, ET, and PMF?
They all have the JAK2 mutation, which is more frequent in Polycythemia vera (PV).
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Primary Myelofibrosis (PMF) Pathophysiology
What does progressive bone marrow failure in PMF lead to?
Extramedullary hematopoiesis.
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Laboratory Findings in Essential Thrombocythemia
What abnormalities are seen in platelet function studies in ET?
Platelet function studies and platelet aggregation are abnormal.
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Essential Thrombocythemia (ET) Characteristics
What abnormal features can be observed in platelets of ET patients?
Large masses of platelet aggregates and abnormal platelet morphology, including giant and bizarre forms.
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Primary Myelofibrosis (PMF) Pathophysiology
What can be observed in a peripheral blood film of PMF?
Immature granulocytes, NRBCs, teardrops, giant platelets, and bizarre RBC shapes.
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Primary Myelofibrosis (PMF) Pathophysiology
What stimulates bone marrow fibroblasts in Primary Myelofibrosis (PMF)?
An abnormal clone of Megakaryocytes.
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Primary Myelofibrosis (PMF) Pathophysiology
What growth factors are released in PMF?
Fibroblastic growth factors (PDGF - β).
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Chronic Myeloid Leukemia (CML) Laboratory Findings
What are the common extramedullary tissue findings in CML?
Splenomegaly and hepatomegaly.
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Essential Thrombocythemia (ET) Characteristics
What is the red blood cell (RBC) count typically like in ET?
Normal or slightly decreased.
p.9
Complications and Symptoms of MPNs
What are some potential clinical presentations of ET?
Vascular occlusion or bleeding.
p.6
Complications and Symptoms of MPNs
What complications increase the risk of hemorrhage and thrombosis in PV?
Splenomegaly, hepatomegaly, generalized vascular engorgement, and circulatory disturbances.
p.4
Chronic Myeloid Leukemia (CML) Laboratory Findings
What happens to chromosomal changes during the blast crisis of CML?
There is an appearance of more chromosomal changes.
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Polycythemia Vera (PV) Diagnosis Criteria
What are the three major WHO criteria for diagnosing Polycythemia Vera?
I - Elevated Hb and HCT, II - BM hypercellularity with trilineage growth, III - Identification of JAK2 mutation.
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Myeloproliferative Neoplasms Overview
What are myeloproliferative neoplasms (MPNs)?
Clonal hematopoietic disorders caused by gene mutations in hematopoietic stem cells (HSCs), leading to increased proliferation and accumulation of mature erythrocytes, granulocytes, and platelets.
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Essential Thrombocythemia (ET) Characteristics
What is the platelet count range in Essential Thrombocythemia?
600 - 2000 x 10^9/L (>450).
p.9
Essential Thrombocythemia (ET) Characteristics
What is the typical white blood cell (WBC) count in Essential Thrombocythemia?
WBCs may be elevated, with possible neutrophilia and slight left shift.
p.9
Essential Thrombocythemia (ET) Characteristics
How is Essential Thrombocythemia often discovered?
In routine CBC (Complete Blood Count).
p.6
Complications and Symptoms of MPNs
What extramedullary tissue findings are present in PV?
Splenomegaly and hepatomegaly.
p.4
Chronic Myeloid Leukemia (CML) Laboratory Findings
What is the change in basophil count during the blast crisis of CML?
There are more basophils.
p.3
Chronic Myeloid Leukemia (CML) Laboratory Findings
What method is used to detect the BCR-ABL1 fusion gene?
Fluorescence in situ hybridization (FISH).
p.1
Chronic Myeloid Leukemia (CML) Laboratory Findings
In which MPN is the Philadelphia chromosome (t(9;22)) found?
Chronic myeloid leukemia (CML).
p.1
Myeloproliferative Neoplasms Overview
In myeloproliferative neoplasms, what is observed regarding cell line predominance?
In all these neoplasms, one cell line predominates.
p.10
Laboratory Findings in Essential Thrombocythemia
How are platelet counts affected in Essential Thrombocythemia?
Platelets are greatly increased.
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Laboratory Findings in Essential Thrombocythemia
What happens to platelet function when the platelet count is reduced to normal?
Platelet function returns to normal.
p.4
Chronic Myeloid Leukemia (CML) Laboratory Findings
What happens to platelet counts during the blast crisis?
Fewer platelets, more abnormal platelets, micromegakaryocytes, and megakaryocytic fragments.
p.4
Chronic Myeloid Leukemia (CML) Laboratory Findings
What characterizes the blast crisis in Chronic Myeloid Leukemia (CML)?
Poor response to therapy.
p.4
Chronic Myeloid Leukemia (CML) Laboratory Findings
What can CML transform into during the blast crisis?
Either acute lymphoid or acute myeloid leukemia.
