MPD

Question 1

What is the characteristic genetic abnormality in CML?

Answer 1

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

Question 2

What does the BCR-ABL fusion gene produce?

Answer 2

A constitutively active tyrosine kinase

Question 3

What are common clinical features of CML?

Answer 3

Fatigue, weight loss, splenomegaly, bleeding, infection

Question 4

How is CML diagnosed?

Answer 4

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

Question 5

What is the first-line treatment for CML?

Answer 5

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

Question 6

What genetic mutation is associated with PV?

Answer 6

JAK2 V617F mutation

Question 7

What does the JAK2 V617F mutation cause in PV?

Answer 7

Hypersensitivity to erythropoietin, resulting in excessive red blood cell production

Question 8

What are common clinical features of PV?

Answer 8

Headache, dizziness, erythromelalgia, splenomegaly, thrombotic complications

Question 9

How is PV diagnosed?

Answer 9

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

Question 10

What is the primary treatment for PV?

Answer 10

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

Question 11

What mutations are commonly found in ET?

Answer 11

JAK2, CALR, MPL mutations

Question 12

What does ET lead to in terms of blood cells?

Answer 12

Excessive production of platelets

Question 13

What are common clinical features of ET?

Answer 13

Often asymptomatic, thrombotic events, bleeding, splenomegaly

Question 14

How is ET diagnosed?

Answer 14

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

Question 15

What is the treatment for ET?

Answer 15

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

Question 16

What is the pathophysiology of PMF?

Answer 16

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

Question 17

What are common clinical features of PMF?

Answer 17

Splenomegaly, fatigue, anemia, constitutional symptoms

Question 18

How is PMF diagnosed?

Answer 18

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

Question 19

What are the treatment strategies for PMF?

Answer 19

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

Question 20

Which disorder is characterized by the Philadelphia chromosome?

Answer 20

Chronic Myeloid Leukemia (CML)

Question 21

What is the main driver mutation in PV?

Answer 21

JAK2 V617F mutation

Question 22

Which disorder involves excessive platelet production?

Answer 22

Essential Thrombocythemia (ET)

Question 23

What are the treatment options for CML?

Answer 23

Tyrosine kinase inhibitors, allogeneic stem cell transplant

Question 24

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

Answer 24

JAK2 mutation

Question 25

Which MPD has a risk of progressing to acute leukemia?

Answer 25

Primary Myelofibrosis (PMF)

Question 26

What is the first-line treatment for PV?

Answer 26

Phlebotomy and low-dose aspirin

Question 27

Which mutation is commonly tested for in PMF?

Answer 27

JAK2, CALR, or MPL mutations

Question 28

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

Answer 28

Burning pain and redness in the extremities, seen in PV

Question 29

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

Answer 29

Primary Myelofibrosis (PMF)

Question 30

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

Answer 30

JAK inhibitors (e.g., ruxolitinib)

Question 31

What is the primary goal of treatment in PV?

Answer 31

To reduce hematocrit levels and prevent thrombotic events

Question 32

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

Answer 32

Cytoreductive therapy to reduce platelet count

Question 33

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

Answer 33

Often asymptomatic, detected on routine blood work

Question 34

Which genetic abnormality is crucial for diagnosing CML?

Answer 34

Philadelphia chromosome (t(9;22))

Question 35

Which treatment can potentially cure CML?

Answer 35

Allogeneic stem cell transplant

Question 36

What are the hallmark laboratory findings in PV?

Answer 36

Elevated hemoglobin and hematocrit levels

Question 37

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

Answer 37

Bone marrow fibrosis and extramedullary hematopoiesis

Question 38

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

Answer 38

Chronic Myeloid Leukemia (CML)

Question 39

Which mutation leads to hypersensitivity to erythropoietin in PV?

Answer 39

JAK2 V617F mutation

Question 40

Which MPD is associated with the highest risk of thrombosis?

Answer 40

Polycythemia Vera (PV)

Question 41

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

Answer 41

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

Question 42

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

Answer 42

Polycythemia Vera (PV)

Question 43

How is the diagnosis of ET confirmed?

Answer 43

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

Question 44

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

Answer 44

Low-dose aspirin

Question 45

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

Answer 45

Primary Myelofibrosis (PMF)

Question 46

What is the common treatment for controlling hematocrit in PV?

Answer 46

Phlebotomy

Question 47

Which mutation is tested in suspected cases of ET?

Answer 47

JAK2, CALR, or MPL mutations

Question 48

What is a common complication in patients with untreated PV?

Answer 48

Thrombotic events

Question 49

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

Answer 49

Primary Myelofibrosis (PMF)

Question 50

What are the typical symptoms of splenomegaly?

Answer 50

Abdominal discomfort, early satiety

Question 51

What role do JAK inhibitors play in PMF?

Answer 51

They help control symptoms and reduce spleen size

Question 52

How is secondary erythrocytosis excluded in the diagnosis of PV?

Answer 52

By ruling out other causes of increased red blood cell production

Question 53

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

Answer 53

JAK2, CALR, or MPL mutations

Question 54

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

Answer 54

It confirms the diagnosis of CML and guides targeted therapy