Chronic Myeloid Leukemia Overview
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Questions and Answers

What chromosomal abnormality is primarily associated with chronic myeloid leukemia (CML)?

  • JAK2V617F mutation
  • BCR-ABL translocation
  • ATRX gene deletion
  • Philadelphia chromosome (correct)

    • Which of the following is a major criteria for diagnosing polycythemia vera?

  • Hemoglobin greater than 16.5 g/dL in men (correct)
  • Cellular hyperplasia in lymph nodes
  • Presence of BCR-ABL fusion gene
  • Increased serum EPO levels

    • What is a common symptom of chronic myeloid leukemia (CML)?

  • Splenomegaly (correct)
  • Excessive sweating
  • Weight gain
  • Chronic fatigue syndrome

    • In patients with chronic myeloid leukemia, what cellular features are typically observed in the peripheral blood?

    <p>Myeloblasts and promyelocytes</p> Signup and view all the answers

    What is the etiological mechanism of chronic myeloid leukemia (CML)?

    <p>Genetic translocation in hematopoietic stem cells</p> Signup and view all the answers

    Which of the following disorders is classified under chronic myeloproliferative disorders?

    <p>Chronic myelogenous leukemia</p> Signup and view all the answers

    What are subnormal serum EPO levels associated with in the context of polycythemia vera?

    <p>Poor hemoglobin oxygenation</p> Signup and view all the answers

    Which statement is true regarding essential thrombocythemia (ET)?

    <p>It involves abnormal platelet production.</p> Signup and view all the answers

    What are the peripheral blood findings in chronic myeloid leukemia (CML)?

    <p>Increased granulocytes, normal reticulocytes, LAP stain decreased</p> Signup and view all the answers

    What is a significant laboratory finding in primary myelofibrosis (PMF)?

    <p>Increased immature granulocytes</p> Signup and view all the answers

    What is a common bone marrow finding in polycythemia vera (PV)?

    <p>Hypercellular with increased reticulin fibers</p> Signup and view all the answers

    What chromosomal abnormality is associated with polycythemia vera?

    <p>JAK2V617F mutation</p> Signup and view all the answers

    What notable finding may occur during a bone marrow aspiration in primary myelofibrosis (PMF)?

    <p>Dry tap due to extensive fibrosis</p> Signup and view all the answers

    Which treatment is associated with primary myelofibrosis (PMF)?

    <p>Ruxolitinib</p> Signup and view all the answers

    Which treatment option is considered curative for chronic myeloid leukemia (CML)?

    <p>Bone marrow transplant or SCT</p> Signup and view all the answers

    What symptom is commonly associated with chronic neutrophilic leukemia (CNL)?

    <p>Pruritis</p> Signup and view all the answers

    What is the characteristic morphology of red blood cells in polycythemia vera?

    <p>Normocytic/normochromic with teardrop cells</p> Signup and view all the answers

    What peripheral blood finding is indicative of chronic neutrophilic leukemia (CNL)?

    <p>Extreme neutrophilia</p> Signup and view all the answers

    What are the common symptoms associated with polycythemia vera?

    <p>Bone marrow fibrosis, splenomegaly, and anemia</p> Signup and view all the answers

    What chromosomal abnormalities are typically NOT associated with chronic neutrophilic leukemia (CNL)?

    <p>Philadelphia chromosome</p> Signup and view all the answers

    What lab findings would you expect in polycythemia vera?

    <p>Increased hemoglobin, hematocrit, low serum EPO</p> Signup and view all the answers

    What is a common morphological feature observed in chronic neutrophilic leukemia (CNL)?

    <p>Toxic granules in neutrophils</p> Signup and view all the answers

    In chronic myeloid leukemia, what happens during the accelerated phase?

    <p>Rapid increase in blast cells with transition to acute leukemia</p> Signup and view all the answers

    Which of the following conditions is a possible progression of chronic neutrophilic leukemia (CNL)?

    <p>Acute myeloid leukemia (AML)</p> Signup and view all the answers

    What happens to hemoglobin levels during the accelerated phase of chronic myeloid leukemia (CML)?

    <p>Hemoglobin levels are decreased</p> Signup and view all the answers

    What is the status of mature white blood cells (WBCs) in the accelerated phase of chronic myeloid leukemia (CML)?

    <p>Mature WBCs are decreased</p> Signup and view all the answers

    What change occurs in basophil levels during the accelerated phase of chronic myeloid leukemia (CML)?

    <p>Basophils increase</p> Signup and view all the answers

    What is the status of platelets in the accelerated phase of chronic myeloid leukemia (CML)?

    <p>Platelet levels are decreased</p> Signup and view all the answers

    What types of cells are predominantly present in the accelerated phase of chronic myeloid leukemia (CML)?

    <p>Micromegakaryocytes and megakaryocyte fragments</p> Signup and view all the answers

    What is the typical WBC count in the accelerated phase of chronic myeloid leukemia (CML)?

    <p>WBC count is increased and unresponsive to therapy</p> Signup and view all the answers

    What percentage of blasts is typically found in peripheral blood during the accelerated phase of chronic myeloid leukemia (CML)?

    <p>20% or more</p> Signup and view all the answers

    What additional chromosomal abnormalities may appear in the accelerated phase of chronic myeloid leukemia (CML)?

    <p>Additional clonal chromosomal abnormalities</p> Signup and view all the answers

    What chromosomal abnormalities are associated with chronic myelomonocytic leukemia (CMML)?

    <p>Deletion of chromosome 7 and trisomy 8</p> Signup and view all the answers

    What is a key morphological characteristic of cells in juvenile myelomonocytic leukemia (JMML)?

    <p>Dysplastic/abnormal monocytes</p> Signup and view all the answers

    Which peripheral blood finding is typically observed in chronic myelomonocytic leukemia (CMML)?

    <p>Persistent monocytosis &gt;1*10^9/L</p> Signup and view all the answers

    What is a distinguishing symptom of juvenile myelomonocytic leukemia (JMML)?

    <p>Anemia</p> Signup and view all the answers

    What are the common bone marrow findings in chronic myelomonocytic leukemia (CMML)?

    <blockquote> <p>20% blasts and bone marrow dysplasia</p> </blockquote> Signup and view all the answers

    Which mutation is NOT associated with juvenile myelomonocytic leukemia (JMML)?

    <p>Philadelphia chromosome</p> Signup and view all the answers

    What is one of the criteria for the accelerated phase of chronic myeloid leukemia (CML) according to WHO?

    <p>Poor response to therapy</p> Signup and view all the answers

    What is a common symptom of chronic myelomonocytic leukemia (CMML)?

    <p>Hepatomegaly and splenomegaly</p> Signup and view all the answers

    Which of the following is a major criterion for pre-PMF according to WHO guidelines?

    <p>Presence of JAK2, CALR, or MPL mutation</p> Signup and view all the answers

    What is a minor criterion for overt PMF according to WHO criteria?

    <p>Palpable splenomegaly</p> Signup and view all the answers

    In essential thrombocythemia (ET), which of the following is considered a major criterion?

    <p>Platelet count equal to or greater than 450 x 10^9/L</p> Signup and view all the answers

    What transition can therapy-related MDS (T-MDS) lead to?

    <p>Acute myeloid leukemia (AML)</p> Signup and view all the answers

    Which statement correctly describes therapy-related MDS?

    <p>More aggressive than De Novo MDS</p> Signup and view all the answers

    Which of the following is a minor criterion for pre-PMF?

    <p>Anemia not attributed to another condition</p> Signup and view all the answers

    What is a characterizing feature of the bone marrow biopsy in essential thrombocythemia?

    <p>Mainly enlarged megakaryocytes with hyperlobulated nuclei</p> Signup and view all the answers

    Which is a criterion that signifies overt PMF as opposed to pre-PMF?

    <p>Increased megakaryopoiesis with reticulin fibrosis</p> Signup and view all the answers

    Study Notes

    Chronic Myeloid Leukemia (CML)

    • Philadelphia chromosome is found in ~95% of cases
    • JAK2V617F mutation is associated with polycythemia vera in most cases.
    • Chromosomal abnormalities are present.

    Chronic Myeloproliferative Disorders

    • Chronic myeloid leukemia (CML)
    • Polycythemia vera (PV)
    • Essential thrombocythemia (ET)
    • Primary myelofibrosis (PMF)
    • Chronic neutrophilic leukemia (CNL)
    • Chronic myelomonocytic leukemia (CMML)
    • Juvenile myelomonocytic leukemia (JMML)

    Polycythemia Vera Major Criteria (WHO)

    • Hemoglobin >16.5 g/dL (men), >16 g/dL (women)
    • Hematocrit >49% (men), >48% (women)
    • Increased red cell mass >35 mL/kg (men), >31 mL/kg (women)
    • Bone marrow biopsy with hypercellularity and panmyelosis
    • Presence of JAK2V617F or JAK2 Exon 12 mutations
    • Subnormal serum EPO levels

    Polycythemia Vera Minor Criteria (WHO)

    • A single genetic translocation in a pluripotent hematopoietic stem cell leads to clonal overproduction of immature neutrophils.
    • Usually diagnosed between ages 45-55.

    Chronic Myeloid Leukemia (CML) Etiology

    • A single genetic translocation in a pluripotent hematopoietic stem cell causes clonal overproduction of immature neutrophils.
    • Usually diagnosed between ages 45-55.

    Chronic Myeloid Leukemia (CML) Chromosomal Abnormality

    • Philadelphia chromosome

    Chronic Myeloid Leukemia (CML) Morphological Features

    • Myeloblasts, promyelocytes, bands, segmented neutrophils (all stages of neutrophil development)

    Polycythemia Vera (PV) Symptoms

    • Triad of bone marrow fibrosis, splenomegaly, and anemia with teardrop cells (dacrocytes).

    Polycythemia Vera (PV) Lab Findings

    • Increased hemoglobin, hematocrit, red cell mass; low serum EPO levels.

    Polycythemia Vera (PV) Peripheral Blood Findings

    • Increased RBCs, total WBCs, granulocytes, and platelets; LAP stain normal to increased.

    Polycythemia Vera (PV) Bone Marrow Findings

    • Hypercellular bone marrow with increased normoblasts, granulocytes, megakaryocytes, and reticulin fibers.

    Essential Thrombocythemia (ET) Etiology

    • Clonal myeloproliferative neoplasm leading to increased megakaryopoiesis and thrombocytosis.

    Essential Thrombocythemia (ET) Chromosomal Abnormality

    • JAK2V617F

    Essential Thrombocythemia (ET) Other Common Mutations

    • CALR and MPL mutations

    Essential Thrombocythemia (ET) Treatment

    • Hydroxyurea, JAK2 inhibitors (Ruxolitinib, Lestaurtinib), low-dose aspirin (prevents thromboses)

    Primary Myelofibrosis (PMF) Etiology and Chromosome Abnormality

    • Splenomegaly and ineffective hematopoiesis caused by hypercellularity, fibrosis, and increased megakaryocytosis of the bone marrow.
    • JAK2V617F

    Primary Myelofibrosis (PMF) Treatment

    • Hydroxyurea, JAK2 inhibitors (Ruxolitinib, Lestaurtinib), CYT387, TG101348

    Chronic Neutrophilic Leukemia (CNL)

    -Extreme neutrophilia; increased neutrophil precursors; Decreased monocytes. RBCs and platelets are normal. Hepatosplenomegaly, mucocutaneous bleeds, gout, pruritis (itching)

    Chronic Neutrophilic Leukemia (CNL) Peripheral Blood Findings

    • Extreme neutrophilia (<70% of cells), WBC count increased >25x10⁹/L, monocytes decreased <1x10⁹/L.

    Chronic Neutrophilic Leukemia (CNL) Bone Marrow Findings

    • Hypercellular; increased neutrophils; myeloblasts >5% of nucleated cells.

    Chronic Myelomonocytic Leukemia (CMML)

    • Malignant hematopoietic stem cells lead to bone marrow dysplasia and monocytosis. May transition to Acute Myeloid Leukemia (AML)
    • Deletion of chromosome 7 and trisomy 8

    Juvenile Myelomonocytic Leukemia (JMML)

    • An aggressive hematopoietic disorder, presenting in childhood (~2 years). Some abnormalities present include PTPN-11, K-RAS, N-RAS, CBL, or NF1 mutations (seen in ~90% of cases). Philadelphia chromosome is NOT implicated..
    • Dysplastic/abnormal monocytes.
    • Immunosuppressive therapy
    • Farnesyltransferase inhibitors
    • Hematopoietic stem cell transplant (cure)

    Additional Chromosomal Abnormalities in the Accelerated Phase of CML

    -Other than Philadelphia chromosome additional clonal chromosomal abnormalities appear in the accelerated phase.

    Fibrosis of Bone Marrow (PMF)

    • Increased Platelet Derived Growth Factor (PDGF) leads to increased collagen and reticulin fiber synthesis.

    Pre-PMF Criteria (WHO)

    • Major: increased megakaryopoiesis, increased granulopoiesis, decreased erythropoiesis, NO reticulin fibrosis, hypercellular BM, JAK2, CALR, or MPL mutation.
    • Minor: anemia not attributed to another condition, leukocytosis 11*10⁹/L, palpable splenomegaly, and elevated LDH.

    Overt PMF Criteria (WHO)

    • Major: increased megakaryopoiesis with reticulin or collagen fibrosis; presence of JAK2, CALR or MPL mutation. No other WHO diagnoses available.
    • Minor: anemia, leukocytosis <11*10⁹/L, palpable splenomegaly, elevated LDH, leukoerythroblastosis (immature Granulocytes and RBCs in peripheral blood).

    Essential Thrombocythemia (ET) Criteria (WHO)

    • Major: platelet count ≥ 450 x 10⁹/L; BM biopsy showing mainly enlarged megakaryocytes with hyperlobulated nuclei. No significant increase in reticulin fibers; presence of JAK2, CALR, or MPL mutations. Does not meet criteria for different diagnoses.
    • Minor: presence of clonal marker OR absence of reactive thrombocytosis

    Different types of MDS classifications and Characteristics

    • MDS-SLD (MDS with single lineage dysplasia): 1 dysplastic lineage; 1-2 cytopenias; <15% ringed sideroblasts; BM <5% blasts; PB <1% blasts; No auer rods; any cytogenetics that does not cause MDS-5q-.
    • MDS-RS-SLD (MDS with ringed sideroblasts, single lineage dysplasia ): 1 dysplastic lineage ; 1-2 cytopenias; <15% ringed sideroblasts ; BM <5% blasts; PB <1% blasts; No auer rods; any cytogenetics that does not cause MDS-5q-.
    • MDS-RS-MLD (MDS with ringed sideroblasts, multilineage dysplasia): 2-3 dysplastic lineages; 1-3 cytopenias; <15% ringed sideroblasts; BM <5% blasts; PB <1% blasts; no auer rods; any cytogenetics that does not cause MDS-5q-.
    • MDS-MLD (MDS with multilineage dysplasia): 2-3 dysplastic lineages; 1-3 cytopenias; <15% ringed sideroblasts; BM <5% blasts; PB <1% blasts. no auer rods; any cytogenetics that does not cause MDS-5q-.

    Other MDS Classifications and Characteristics

    • MDS-U 1% blasts, 1-3 dysplastic lineage, 1-3 cytopenias, none or any ringed sideroblasts, BM <5% blasts, PB <1%blasts, no auer rods.
    • MDS-U with SLD and pancytopenia: 1 dysplastic lineage; 3 cytopenias; none or any ringed sideroblasts; BM <5% blasts; PB <1% blasts; No auer rods
    • MDS-U defining cytogenetic abnormality: 0 dysplastic lineages; 1-3 cytopenias; <15% ringed sideroblasts; BM <5% blasts; PB <1% blasts; no auer rods.
    • MDS-U refractory cytopenia of childhood : 1-3 dysplastic lineages; 1-3 cytopenias; no ringed sideroblasts; BM <5% blasts; PB <2% blasts any cytogenetics

    MDS treatment

    • Supportive care: transfusions, pain meds
    • Lealidomide, azacytidine, deitabine
    • Growth factors: EPO (erythropoietin), TPO(thrombopoietin), G-CSF (granulocyte colony stimulating factors).

    Additional information for MDS and other disorders

    • Auer rods: formed by granules fusing together, appear like lines branching off the nucleus.
    • Splenomegaly unresponsive to therapy
    • Thrombocytosis or thrombocytopenia
    • e20% blasts in peripheral blood -10-19% blasts in bone marrow.
    • Decreased adhesion to endothelium.
    • Phagocytosis is decreased.
    • Chemotaxis is decreased.
    • RBCs have a shortened survival.
    • RBCs have decreased response to EPO.
    • Increased bleeding despite high platelet counts.
    • Increased Platelet Derived Growth Factor (PDGF)
    • Increased collagen and reticulin fibers in the bone marrow.
    • Myelodysplastic Syndrome (MDS) characteristics include: oval macrocytes; hypochromic microcytes; dimorphic RBC population; poikilocytosis; basophilic stippling; Howell-Jolly bodies; siderocytes; and Pappenheimer bodies. Key features of RBC precursors in the bone marrow include multi-nucleated RBC precursors; abnormal nuclear shapes (lobes, buds, fragments, nuclear bridging).
    • Ringed sideroblasts and megablastic cellular development
    • Acquired clonal hematologic disorders causing progressive cytopenia; defects in erythroid, myeloid and/or megakaryocytic maturation.
    • MDS affects older individuals (typically around 76 years old). .
    • Pathological changes/mutations in hematopoietic stem cells lead to mutations and cloning of stem cells, resulting in Dyspoiesis.
    • Decreased adhesion to endothelium

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    Description

    This quiz covers key concepts related to Chronic Myeloid Leukemia (CML) and other chronic myeloproliferative disorders. It examines the Philadelphia chromosome, JAK2 mutations, and the diagnostic criteria for Polycythemia Vera as defined by the WHO. Test your understanding of these important hematological conditions.

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