Myeloproliferative Disorders Overview

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Questions and Answers

What is a key feature of Essential Thrombocythemia (ET) that distinguishes it from Chronic Myeloid Leukemia (CML)?

  • Increased megakaryocyte numbers in the bone marrow.
  • The presence of giant platelets.
  • The absence of the Philadelphia chromosome. (correct)
  • Abnormal platelet function leading to haemorrhage.

Which of the following is NOT a common symptom associated with Essential Thrombocythemia?

  • Splenomegaly.
  • Erythromelalgia.
  • Severe chest pain. (correct)
  • Fatigue.

What is the typical range for platelet counts in patients diagnosed with Essential Thrombocythemia (ET)?

  • 50-70 x 10^9/L
  • 150-250 x 10^9/L
  • 450-1000 x 10^9/L (correct)
  • 1500-2000 x 10^9/L

Which of the following statements accurately describes the role of Hydroxycarbamide in treating Essential Thrombocythemia?

<p>It targets and inhibits megakaryocyte development, reducing platelet counts. (B)</p> Signup and view all the answers

Which of the following is a key characteristic of megakaryocytes in Essential Thrombocythemia?

<p>Presence of multiple nuclei. (B)</p> Signup and view all the answers

What is the typical timeframe for Essential Thrombocythemia (ET) to remain stationary without progressing to other conditions?

<p>10-20 years (B)</p> Signup and view all the answers

Which of the following conditions is NOT considered a potential differential diagnosis for Essential Thrombocythemia?

<p>Acute Myeloid Leukemia. (B)</p> Signup and view all the answers

What is the role of platelet-derived growth factor (PDGF) in the progression of Essential Thrombocythemia to Myelofibrosis?

<p>PDGF stimulates fibroblast growth, contributing to bone marrow fibrosis and myelofibrosis. (D)</p> Signup and view all the answers

Which disorder is NOT classified as a myeloproliferative disorder?

<p>Acute Lymphoblastic Leukemia (C)</p> Signup and view all the answers

The increased risk of transforming to acute leukemia is a common feature of which condition?

<p>All of the above (D)</p> Signup and view all the answers

What does the term 'clonal hematopoietic stem cell disease' imply in the context of myeloproliferative disorders?

<p>The disease arises from a single stem cell line leading to excessive cell production (D)</p> Signup and view all the answers

At what age group is myeloproliferative disorders more commonly found?

<p>Individuals over 50 (A)</p> Signup and view all the answers

Which of the following hematologic cell lines is NOT typically produced in excess in myeloproliferative disorders?

<p>Lymphocytes (B)</p> Signup and view all the answers

What is a primary consequence of increased megakaryocyte activity in hematopoietic stem cells?

<p>Increased fibroblast proliferation and bone marrow fibrosis (C)</p> Signup and view all the answers

Which of the following growth factors is involved in stimulating fibroblast activity related to myelofibrosis?

<p>Platelet Derived Growth Factor (B)</p> Signup and view all the answers

What laboratory finding is characteristic of a leukoerythroblastic film?

<p>Presence of immature leukocytes and nucleated red blood cells (B)</p> Signup and view all the answers

Which treatment option is NOT typically used for managing myelofibrosis?

<p>Radiation therapy (D)</p> Signup and view all the answers

What is one of the potential outcomes of untreated myelofibrosis?

<p>Progression to acute myeloid leukemia (AML) (C)</p> Signup and view all the answers

Which mutation is commonly screened for in patients suspected of having myelofibrosis?

<p>JAK-2 (A)</p> Signup and view all the answers

What is a common clinical feature associated with myelofibrosis?

<p>Pancytopenia (C)</p> Signup and view all the answers

What morphological feature is indicative of myelofibrosis in a peripheral blood smear?

<p>Presence of giant platelets (A)</p> Signup and view all the answers

Which of the following is NOT a major complication of hyperviscosity syndrome?

<p>Anemia (C)</p> Signup and view all the answers

What change occurs at the 617 position due to the JAK2 mutation in polycythaemia vera?

<p>A switch from valine to phenylalanine (C)</p> Signup and view all the answers

In the diagnosis of polycythaemia vera, which combination fulfills the criteria outlined?

<p>A1 and A2 with any 2 parameters from B (D)</p> Signup and view all the answers

Which of the following statements regarding treatment options for polycythaemia vera is TRUE?

<p>Aspirin reduces symptoms of hyperviscosity. (B)</p> Signup and view all the answers

What laboratory finding is associated with an increased risk of thrombosis in polycythaemia vera patients?

<p>Elevated platelets (A)</p> Signup and view all the answers

Which molecular change is a common finding in all patients with polycythaemia vera?

<p>JAK2 (V617F) mutation (A)</p> Signup and view all the answers

Which of the following is NOT typically expected in the lab findings of a patient with polycythaemia vera?

<p>Low platelet count (C)</p> Signup and view all the answers

Which of the following conditions is considered a secondary cause of increased red cell mass but is NOT a primary hematological disorder?

<p>Chronic hypoxia due to smoking (B)</p> Signup and view all the answers

Which mutation is primarily associated with Polycythaemia Rubra Vera (PRV)?

<p>JAK2 V617F mutation (C)</p> Signup and view all the answers

What characterizes the blood condition referred to as 'absolute polycythaemia'?

<p>Actual increase in RBC volume either primary or secondary (D)</p> Signup and view all the answers

Which condition is characterized by a BCR-ABL-1 fusion gene?

<p>Chronic Myeloid Leukaemia (A)</p> Signup and view all the answers

What is a significant symptom of Polycythaemia Rubra Vera (PRV)?

<p>Headache (A)</p> Signup and view all the answers

What type of blood smear is primarily used to diagnose leukaemia?

<p>Peripheral Blood Smear (A)</p> Signup and view all the answers

Which statement correctly describes tyrosine kinase (TK) mutations in Polycythaemia Rubra Vera?

<p>TK mutations activate growth irrespective of EPO level (A)</p> Signup and view all the answers

Which of the following is NOT considered a component of myelofibrosis?

<p>Thrombocytosis (D)</p> Signup and view all the answers

Which mutation is associated with both Myelofibrosis and Essential Thrombocythemia?

<p>JAK2 V617F (B)</p> Signup and view all the answers

Flashcards

JAK2 V617F mutation

A mutation commonly found in primary hematological malignancies like polycythemia vera.

Polycythaemia Rubra Vera (PRV)

A blood disorder characterized by increased red blood cell mass and JAK2 mutation.

Absolute polycythaemia

An increase in red blood cell volume due to primary or secondary causes.

Relative polycythaemia

Normal red blood cell volume with reduced plasma volume.

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Essential Thrombocythemia (ET)

A blood disorder causing high platelet counts often linked to JAK2 mutations.

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Myelofibrosis (MF)

A serious bone marrow disorder that disrupts the body's normal production of blood cells.

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Chronic Myeloid Leukaemia (CML)

A type of cancer characterized by the overproduction of myeloid cells and a BCR-ABL fusion gene.

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Bone Marrow Biopsy

A procedure to collect and examine bone marrow for diagnosing disorders like leukaemia.

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Hyperviscosity Syndrome

A condition characterized by increased blood viscosity affecting circulation and causing symptoms like confusion, headache, and bleeding.

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JAK2 mutation

Mutation in the Janus kinase 2 gene, leading to abnormal cell proliferation and linked to conditions like Polycythemia Vera.

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Symptoms of PV

Common symptoms include headache, high blood pressure, bleeding episodes, pruritis, splenomegaly, and dyspnea.

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Diagnosis of PV

Made by fulfilling criteria that include specific blood test results and parameters related to the disease.

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PV differential diagnosis

Conditions that mimic PV include EPO secreting tumors and reactive polycythemia due to various causes like smoking or altitude.

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Treatment of PV

Common treatments include myelosuppressive drugs, antihistamines, aspirin, and phlebotomy.

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Lab findings in PV

Common lab findings include elevated Hb, RCC, and PCV, along with high NAP and LDH, with hypercellularity in the bone marrow.

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Clonal abnormality

A genetic alteration in hemopoietic stem cells leading to abnormalities in blood cell formation.

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Megakaryocyte activity

Increased megakaryocyte function resulting in more platelet production.

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Bone marrow fibrosis

Scar tissue formation in bone marrow affecting blood cell production.

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Leukoerythroblastic film

Presence of immature white and red blood cells in circulation due to marrow failure.

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Myelofibrosis treatment

Medical approaches including transfusions, JAK-2 inhibitors, and splenectomy for managing myelofibrosis.

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Extramedullary hematopoiesis

Blood cell production occurring outside the bone marrow due to marrow failure.

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Progression to AML

Potential advancement of myelofibrosis to acute myeloid leukemia.

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Myeloproliferative Disorders

Conditions characterized by uncontrolled growth of blood cell lines from bone marrow.

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Polycythemia Vera

A type of MPD leading to increased red blood cell mass and potential complications.

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Essential Thrombocythemia

An MPD causing an overproduction of platelets, increasing blood clot risk.

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Primary Myelofibrosis

An MPD resulting in scar tissue in the bone marrow, affecting blood cell production.

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Risk of Acute Leukemia Transformation

Increased risk of progressing from MPD to acute leukemia over time.

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Clinical Manifestation of ET

Symptoms include thrombosis, hemorrhage, splenomegaly, and erythromelalgia.

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Platelet count in ET

Persistently elevated platelet count >450 x 10^9/L, often >1000.

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Diagnostic tests for ET

Includes bone marrow biopsy showing increased megakaryocytes and JAK2 mutation.

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Differential Diagnosis for ET

Conditions like reactive thrombocytosis, polycythemia vera, and chronic leukemia must be excluded.

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ET Treatments

Includes aspirin, hydroxycarbamide, and anagrelide to reduce platelet counts.

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Primary Myelofibrosis (PMF)

A condition characterized by progressive fibrosis of the bone marrow affecting blood cell production.

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PDGF in PMF

Platelet-derived growth factor leads to abnormal fibroblast activity in myelofibrosis.

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Study Notes

Myeloproliferative Disorders (MPD)

  • MPDs are also known as myeloproliferative neoplasms (MPN)
  • Characterized by the uncontrolled proliferation of one or more hematopoietic cell lines
  • Includes excessive production of erythrocytes, granulocytes, and platelets
  • Common in individuals over 50 years of age
  • Often overlap in findings between different diseases
  • Increased risk of transforming to acute leukemia

Specific MPDs

  • Polycythemia Vera (PV):

    • Increased RBC (red blood cell) volume
    • Often associated with a JAK2 V617F mutation
    • Elevated hemoglobin and hematocrit levels
    • Symptoms include headache, high blood pressure, and bleeding episodes
    • Diagnosis involves full blood count, bone marrow biopsy, cytogenetics, and molecular analysis for JAK2 mutation
    • Treatment includes myelosuppressive drugs like interferon or hydroxyurea, antihistamines, aspirin, and phlebotomy.

  • Essential Thrombocythemia (ET):

    • Characterized by persistently high platelet count (often more than 600 x 109/L)
    • Related to megakaryocyte proliferation and overproduction of platelets
    • Common in 50-70-year-olds, with both sexes affected equally,
    • Symptoms may include arterial thrombosis, hemorrhage, splenomegaly, and erythromelalgia.
    • Diagnosed with a platelet count, bone marrow biopsy, cytogenetics, and molecular analysis for JAK2 mutation
    • Treatment includes aspirin, chemotherapy (hydroxycarbamide), and anagrelide.

  • Primary Myelofibrosis (PMF):

    • Progressive fibrosis (scar tissue) in the bone marrow that interferes with blood cell production (myeloid metaplasia)
    • Resulting in extramedullary hematopoiesis in the spleen and liver.
    • Thought to relate to increased release of growth factors (such as PDGF), from megakaryocytes
    • Diagnosis involves full blood tests, bone marrow biopsy, cytogenetics, and molecular analysis for JAK2 mutation.
    • Typically progresses over 4-5 years.
    • Treatment may include anemia treatment, splenectomy, JAK2 inhibitor, chemotherapy, or allogeneic bone marrow transplant.

Overall Diagnosis and Treatment

  • Diagnosis typically involves a variety of tests, including a full blood count, peripheral blood smear, bone marrow biopsy, cytogenetics, and molecular analysis like JAK2 mutation checking.
  • Treatment strategy often varies according to the specific myeloproliferative disorder and an individual's condition.
  • Different strategies include reducing blood cell production, addressing affected organs (like splenectomy), symptom management, or more invasive therapies like bone marrow transplant.

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