MPD Flashcards
What is the characteristic genetic abnormality in CML?
Philadelphia chromosome (t(9;22)), resulting in the BCR-ABL fusion gene
What does the BCR-ABL fusion gene produce?
A constitutively active tyrosine kinase
What are common clinical features of CML?
Fatigue, weight loss, splenomegaly, bleeding, infection
How is CML diagnosed?
Detection of the Philadelphia chromosome or BCR-ABL fusion gene by cytogenetics or PCR
What is the first-line treatment for CML?
Tyrosine kinase inhibitors (e.g., imatinib, dasatinib)
What genetic mutation is associated with PV?
JAK2 V617F mutation
What does the JAK2 V617F mutation cause in PV?
Hypersensitivity to erythropoietin, resulting in excessive red blood cell production
What are common clinical features of PV?
Headache, dizziness, erythromelalgia, splenomegaly, thrombotic complications
How is PV diagnosed?
Elevated hemoglobin/hematocrit, presence of JAK2 mutation, exclusion of secondary causes
What is the primary treatment for PV?
Phlebotomy to reduce hematocrit, low-dose aspirin, cytoreductive therapy
What mutations are commonly found in ET?
JAK2, CALR, MPL mutations
What does ET lead to in terms of blood cells?
Excessive production of platelets
What are common clinical features of ET?
Often asymptomatic, thrombotic events, bleeding, splenomegaly
How is ET diagnosed?
Elevated platelet count, presence of JAK2, CALR, or MPL mutations, exclusion of reactive causes
What is the treatment for ET?
Low-dose aspirin, cytoreductive therapy (e.g., hydroxyurea)
What is the pathophysiology of PMF?
Clonal proliferation of abnormal hematopoietic stem cells leading to bone marrow fibrosis
What are common clinical features of PMF?
Splenomegaly, fatigue, anemia, constitutional symptoms
How is PMF diagnosed?
Bone marrow biopsy showing fibrosis, presence of JAK2, CALR, or MPL mutations
What are the treatment strategies for PMF?
Supportive care, JAK inhibitors (e.g., ruxolitinib), allogeneic stem cell transplant
Which disorder is characterized by the Philadelphia chromosome?
Chronic Myeloid Leukemia (CML)
What is the main driver mutation in PV?
JAK2 V617F mutation
Which disorder involves excessive platelet production?
Essential Thrombocythemia (ET)
What are the treatment options for CML?
Tyrosine kinase inhibitors, allogeneic stem cell transplant
Which mutation is found in approximately 50-60% of ET cases?
JAK2 mutation
Which MPD has a risk of progressing to acute leukemia?
Primary Myelofibrosis (PMF)
What is the first-line treatment for PV?
Phlebotomy and low-dose aspirin
Which mutation is commonly tested for in PMF?
JAK2, CALR, or MPL mutations
What is erythromelalgia and in which disorder is it commonly seen?
Burning pain and redness in the extremities, seen in PV
Which disorder is often diagnosed with a bone marrow biopsy showing fibrosis?
Primary Myelofibrosis (PMF)
What type of therapy is used to control symptoms in PMF?
JAK inhibitors (e.g., ruxolitinib)
What is the primary goal of treatment in PV?
To reduce hematocrit levels and prevent thrombotic events
What is the role of hydroxyurea in the treatment of ET?
Cytoreductive therapy to reduce platelet count
What is a common presentation of CML in the chronic phase?
Often asymptomatic, detected on routine blood work
Which genetic abnormality is crucial for diagnosing CML?
Philadelphia chromosome (t(9;22))
Which treatment can potentially cure CML?
Allogeneic stem cell transplant
What are the hallmark laboratory findings in PV?
Elevated hemoglobin and hematocrit levels
What is a key differentiating feature of PMF compared to other MPDs?
Bone marrow fibrosis and extramedullary hematopoiesis
Which disorder is characterized by an overproduction of mature myeloid cells?
Chronic Myeloid Leukemia (CML)
Which mutation leads to hypersensitivity to erythropoietin in PV?
JAK2 V617F mutation
Which MPD is associated with the highest risk of thrombosis?
Polycythemia Vera (PV)
What is the significance of the JAK2 V617F mutation in MPDs?
It is a common driver mutation in PV, ET, and PMF
Which disorder may present with headaches, dizziness, and splenomegaly?
Polycythemia Vera (PV)
How is the diagnosis of ET confirmed?
Elevated platelet count and presence of JAK2, CALR, or MPL mutations
What is the mainstay of treatment for asymptomatic patients with ET?
Low-dose aspirin
Which disorder is characterized by clonal proliferation of abnormal hematopoietic stem cells?
Primary Myelofibrosis (PMF)
What is the common treatment for controlling hematocrit in PV?
Phlebotomy
Which mutation is tested in suspected cases of ET?
JAK2, CALR, or MPL mutations
What is a common complication in patients with untreated PV?
Thrombotic events
Which disorder can progress to acute leukemia and is characterized by bone marrow fibrosis?
Primary Myelofibrosis (PMF)
What are the typical symptoms of splenomegaly?
Abdominal discomfort, early satiety
What role do JAK inhibitors play in PMF?
They help control symptoms and reduce spleen size
How is secondary erythrocytosis excluded in the diagnosis of PV?
By ruling out other causes of increased red blood cell production
Which mutation is commonly associated with the overproduction of platelets in ET?
JAK2, CALR, or MPL mutations
What is the clinical significance of finding the BCR-ABL fusion gene in a patient?
It confirms the diagnosis of CML and guides targeted therapy
