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Haema 2 > MPD > Flashcards

MPD Flashcards

1
Q

What is the characteristic genetic abnormality in CML?

A

Philadelphia chromosome (t(9;22)), resulting in the BCR-ABL fusion gene

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2
Q

What does the BCR-ABL fusion gene produce?

A

A constitutively active tyrosine kinase

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3
Q

What are common clinical features of CML?

A

Fatigue, weight loss, splenomegaly, bleeding, infection

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4
Q

How is CML diagnosed?

A

Detection of the Philadelphia chromosome or BCR-ABL fusion gene by cytogenetics or PCR

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5
Q

What is the first-line treatment for CML?

A

Tyrosine kinase inhibitors (e.g., imatinib, dasatinib)

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6
Q

What genetic mutation is associated with PV?

A

JAK2 V617F mutation

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7
Q

What does the JAK2 V617F mutation cause in PV?

A

Hypersensitivity to erythropoietin, resulting in excessive red blood cell production

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8
Q

What are common clinical features of PV?

A

Headache, dizziness, erythromelalgia, splenomegaly, thrombotic complications

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9
Q

How is PV diagnosed?

A

Elevated hemoglobin/hematocrit, presence of JAK2 mutation, exclusion of secondary causes

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10
Q

What is the primary treatment for PV?

A

Phlebotomy to reduce hematocrit, low-dose aspirin, cytoreductive therapy

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11
Q

What mutations are commonly found in ET?

A

JAK2, CALR, MPL mutations

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12
Q

What does ET lead to in terms of blood cells?

A

Excessive production of platelets

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13
Q

What are common clinical features of ET?

A

Often asymptomatic, thrombotic events, bleeding, splenomegaly

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14
Q

How is ET diagnosed?

A

Elevated platelet count, presence of JAK2, CALR, or MPL mutations, exclusion of reactive causes

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15
Q

What is the treatment for ET?

A

Low-dose aspirin, cytoreductive therapy (e.g., hydroxyurea)

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16
Q

What is the pathophysiology of PMF?

A

Clonal proliferation of abnormal hematopoietic stem cells leading to bone marrow fibrosis

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17
Q

What are common clinical features of PMF?

A

Splenomegaly, fatigue, anemia, constitutional symptoms

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18
Q

How is PMF diagnosed?

A

Bone marrow biopsy showing fibrosis, presence of JAK2, CALR, or MPL mutations

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19
Q

What are the treatment strategies for PMF?

A

Supportive care, JAK inhibitors (e.g., ruxolitinib), allogeneic stem cell transplant

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20
Q

Which disorder is characterized by the Philadelphia chromosome?

A

Chronic Myeloid Leukemia (CML)

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21
Q

What is the main driver mutation in PV?

A

JAK2 V617F mutation

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22
Q

Which disorder involves excessive platelet production?

A

Essential Thrombocythemia (ET)

23
Q

What are the treatment options for CML?

A

Tyrosine kinase inhibitors, allogeneic stem cell transplant

24
Q

Which mutation is found in approximately 50-60% of ET cases?

A

JAK2 mutation

25
Q

Which MPD has a risk of progressing to acute leukemia?

A

Primary Myelofibrosis (PMF)

26
Q

What is the first-line treatment for PV?

A

Phlebotomy and low-dose aspirin

27
Q

Which mutation is commonly tested for in PMF?

A

JAK2, CALR, or MPL mutations

28
Q

What is erythromelalgia and in which disorder is it commonly seen?

A

Burning pain and redness in the extremities, seen in PV

29
Q

Which disorder is often diagnosed with a bone marrow biopsy showing fibrosis?

A

Primary Myelofibrosis (PMF)

30
Q

What type of therapy is used to control symptoms in PMF?

A

JAK inhibitors (e.g., ruxolitinib)

31
Q

What is the primary goal of treatment in PV?

A

To reduce hematocrit levels and prevent thrombotic events

32
Q

What is the role of hydroxyurea in the treatment of ET?

A

Cytoreductive therapy to reduce platelet count

33
Q

What is a common presentation of CML in the chronic phase?

A

Often asymptomatic, detected on routine blood work

34
Q

Which genetic abnormality is crucial for diagnosing CML?

A

Philadelphia chromosome (t(9;22))

35
Q

Which treatment can potentially cure CML?

A

Allogeneic stem cell transplant

36
Q

What are the hallmark laboratory findings in PV?

A

Elevated hemoglobin and hematocrit levels

37
Q

What is a key differentiating feature of PMF compared to other MPDs?

A

Bone marrow fibrosis and extramedullary hematopoiesis

38
Q

Which disorder is characterized by an overproduction of mature myeloid cells?

A

Chronic Myeloid Leukemia (CML)

39
Q

Which mutation leads to hypersensitivity to erythropoietin in PV?

A

JAK2 V617F mutation

40
Q

Which MPD is associated with the highest risk of thrombosis?

A

Polycythemia Vera (PV)

41
Q

What is the significance of the JAK2 V617F mutation in MPDs?

A

It is a common driver mutation in PV, ET, and PMF

42
Q

Which disorder may present with headaches, dizziness, and splenomegaly?

A

Polycythemia Vera (PV)

43
Q

How is the diagnosis of ET confirmed?

A

Elevated platelet count and presence of JAK2, CALR, or MPL mutations

44
Q

What is the mainstay of treatment for asymptomatic patients with ET?

A

Low-dose aspirin

45
Q

Which disorder is characterized by clonal proliferation of abnormal hematopoietic stem cells?

A

Primary Myelofibrosis (PMF)

46
Q

What is the common treatment for controlling hematocrit in PV?

A

Phlebotomy

47
Q

Which mutation is tested in suspected cases of ET?

A

JAK2, CALR, or MPL mutations

48
Q

What is a common complication in patients with untreated PV?

A

Thrombotic events

49
Q

Which disorder can progress to acute leukemia and is characterized by bone marrow fibrosis?

A

Primary Myelofibrosis (PMF)

50
Q

What are the typical symptoms of splenomegaly?

A

Abdominal discomfort, early satiety

51
Q

What role do JAK inhibitors play in PMF?

A

They help control symptoms and reduce spleen size

52
Q

How is secondary erythrocytosis excluded in the diagnosis of PV?

A

By ruling out other causes of increased red blood cell production

53
Q

Which mutation is commonly associated with the overproduction of platelets in ET?

A

JAK2, CALR, or MPL mutations

54
Q

What is the clinical significance of finding the BCR-ABL fusion gene in a patient?

A

It confirms the diagnosis of CML and guides targeted therapy

Haema 2 (6 decks)

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