Haematological Malignancies - CML Overview
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Questions and Answers

What percentage of all leukaemias does Chronic Myeloid Leukaemia (CML) represent?

  • 15-20% (correct)
  • 5-10%
  • 25-30%
  • 40-50%

CML progresses faster than Acute Myeloid Leukaemia (AML).

False (B)

What is the defining genetic abnormality associated with CML?

Philadelphia chromosome

CML is characterized by massive overproduction of __________ precursors.

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

Which laboratory parameter would typically indicate anaemia in CML?

<p>Haemoglobin of 94 g/L (B)</p> Signup and view all the answers

Patients in the chronic phase of CML are typically asymptomatic.

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

Name one common symptom of CML upon presentation.

<p>Weight loss, splenomegaly, or pallor</p> Signup and view all the answers

Match the lab parameters with their corresponding results in CML:

<p>Haemoglobin = 94 g/L White Cell Count = 21 x 10^9/L Platelets = 119 x 10^9/L Eosinophils = 0.8 x 10^9/L</p> Signup and view all the answers

The BCR-ABL fusion gene leads to __________ tyrosine kinase activity.

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

What causes the overproduction of myeloid cells in CML?

<p>Acquired genetic change in stem cells (A)</p> Signup and view all the answers

What is the hallmark genetic change associated with Chronic Myeloid Leukaemia (CML)?

<p>Philadelphia chromosome (B), BCR-ABL1 fusion gene (D)</p> Signup and view all the answers

Stem cell transplant is considered a curative treatment for Chronic Myeloid Leukaemia (CML).

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

What laboratory techniques are used for the diagnosis of CML?

<p>FBC, blood film, bone marrow examination, PCR, cytogenetics</p> Signup and view all the answers

Chronic Lymphocytic Leukaemia (CLL) is characterized by clonal proliferation of __________ cells found in the blood.

<p>mature B</p> Signup and view all the answers

What is the normal reference range for haemoglobin levels?

<p>120-170 g/L (A)</p> Signup and view all the answers

Match the CLL stages with their corresponding life expectancy:

<p>Stage A = 13 years Stage B = Varies Stage C = 2 years</p> Signup and view all the answers

What is the first line treatment typically used for CML?

<p>Tyrosine Kinase Inhibitors (C)</p> Signup and view all the answers

Lymphocytosis is indicated when the white cell count is within the normal range.

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

What treatment combines Rituximab with chemotherapy for significant symptoms?

<p>Rituximab + Chemotherapy</p> Signup and view all the answers

Chronic Lymphocytic Leukaemia (CLL) can present with symptoms such as fatigue and swollen abdomen.

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

What is the most common type of white cell malignancy?

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

Acute Myeloid Leukaemia typically has a slow onset.

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

The most common leukaemia in the Western world is _____ .

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

What are the two subcategories of Chronic Lymphocytic Leukaemia based on the immunoglobulin heavy chain variable region?

<p>Unmutated and mutated</p> Signup and view all the answers

What are the two classifications of leukaemia based on the maturity of cells?

<p>Acute and Chronic</p> Signup and view all the answers

Match the following laboratory tests to their results or findings:

<p>FBC = Provides parameters like haemoglobin, red cell count, etc. Peripheral Blood Film = Presence of smudge cells Immunophenotyping = CD markers to identify cell types Cytogenetics = Identifies chromosomal abnormalities like del13q14</p> Signup and view all the answers

The primary symptom of CLL that relates to the immune system is __________.

<p>recurrent infections</p> Signup and view all the answers

Which of the following markers is used in the immunophenotyping for CLL diagnosis?

<p>CD19 (C)</p> Signup and view all the answers

CML stands for _______.

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

Which of the following is NOT a characteristic symptom of CLL?

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

Match the leukaemia types with their characteristics:

<p>Acute Myeloid Leukaemia = Rapid onset, immature cells Chronic Myeloid Leukaemia = Slow onset, more mature cells Acute Lymphoblastic Leukaemia = Rapid onset, immature cells Chronic Lymphocytic Leukaemia = Subclinical/incidental</p> Signup and view all the answers

Corticosteroids are primarily used to treat CLL by improving immune response.

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

Which statement describes the clinical features of chronic leukaemias?

<p>They typically have a slow onset and may be asymptomatic. (A)</p> Signup and view all the answers

List one common symptom of CLL.

<p>Anaemia, recurrent infections, weight loss, lymphadenopathy, hepatosplenomegaly</p> Signup and view all the answers

Laboratory diagnosis is not important in the classification of leukaemias.

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

Low antibody levels in CLL are assessed during _____ tests.

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

What should be done when symptoms become significant in CLL?

<p>Administration of Rituximab and Chemotherapy (C)</p> Signup and view all the answers

Name one type of acute leukaemia.

<p>Acute Myeloid Leukaemia (AML) or Acute Lymphoblastic Leukaemia (ALL)</p> Signup and view all the answers

Chronic leukaemia is generally considered _______.

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

Match the following terms with their corresponding leukaemia type:

<p>CML = Chronic Myeloid Leukaemia AML = Acute Myeloid Leukaemia ALL = Acute Lymphoblastic Leukaemia CLL = Chronic Lymphocytic Leukaemia</p> Signup and view all the answers

Flashcards

Leukaemia

A type of cancer affecting blood-forming cells in the bone marrow, leading to an overproduction of white blood cells.

Acute Leukaemia

A type of leukaemia characterized by the rapid growth of immature white blood cells, causing a swift onset of symptoms.

Chronic Leukaemia

A type of leukaemia characterized by the slow growth of more mature white blood cells, often with subtle or delayed symptoms.

Acute Myeloid Leukaemia (AML)

A type of acute leukaemia that affects myeloid cells, responsible for creating red blood cells, platelets, and some white blood cells.

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Acute Lymphoblastic Leukaemia (ALL)

A type of acute leukaemia that affects lymphoid cells, which are responsible for producing white blood cells that fight infection.

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Chronic Myeloid Leukaemia (CML)

A type of chronic leukaemia characterized by the slow, uncontrolled growth of myeloid cells in the bone marrow, leading to overproduction of white blood cells.

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Chronic Lymphocytic Leukaemia (CLL)

A type of chronic leukaemia characterized by the slow, uncontrolled growth of lymphoid cells, leading to overproduction of white blood cells.

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Leukaemia: Accumulation of cells

The accumulation of malignant white blood cells in the bone marrow or blood.

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Leukaemia: Origin of malignant cells

Malignant cells in leukaemia can arise from the haemopoietic stem cell or progenitor.

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Leukaemia: Classification factors

The classification of leukaemia is based on the type of white blood cell affected , the speed of the disease and the maturity of the cells.

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What is CLL?

Chronic Lymphocytic Leukemia (CLL) is a type of cancer that affects the blood and bone marrow, characterized by an overproduction of abnormal lymphocytes (a type of white blood cell).

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Where is CLL most common?

CLL is the most prevalent type of leukemia in the Western world.

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What cells are affected in CLL?

In CLL, there is an abnormal overgrowth of B-lymphocytes, a specific type of white blood cell responsible for antibody production.

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What are the symptoms of CLL?

CLL is characterized by symptoms like fatigue due to low red blood cell count (anemia), frequent infections due to low white blood cell count, unintentional weight loss, swollen lymph nodes, and enlarged spleen and liver.

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How is CLL diagnosed?

CLL diagnosis involves various tests like FBC (Complete Blood Count), blood film examination, bone marrow biopsy, and immunophenotyping.

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What is thrombocytopenia?

CLL often involves a decrease in the platelet count, which can lead to easy bruising or bleeding.

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What is hyperleukocytosis?

CLL is also associated with an increased white blood cell count, suggesting a potential for a higher chance of infections.

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What are the treatment options for CLL?

Rituximab, a monoclonal antibody that targets CD20, is often used in combination with chemotherapy, such as fludarabine and cyclophosphamide, to treat CLL.

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What are corticosteroids used for in CLL treatment?

Corticosteroids are sometimes used to help recover from a drop in all blood cell counts (pancytopenia) associated with CLL treatment.

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What is splenectomy and why is it used in CLL?

Splenectomy, the removal of the spleen, can be performed in CLL patients to reduce pain and manage the disease when other treatments are not effective.

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Peripheral Blood Film

A laboratory test involving the microscopic examination of a blood sample to identify and count different types of blood cells.

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Philadelphia Chromosome (t(9;22))

A genetic alteration in the Philadelphia chromosome (t(9;22)) that leads to the production of a fusion protein called BCR-ABL1.

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BCR-ABL1 Fusion Gene

A type of gene mutation that results in the production of an abnormal protein with tyrosine kinase activity, which is a key driver of CML.

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Band Cell

A specific type of blood cell with a horseshoe-shaped nucleus.

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Blast Cell

A type of blood cell that is immature and considered a precursor to other blood cells.

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Binet Staging Classification

A system for classifying CLL based on the presence or absence of anemia and thrombocytopenia.

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Tyrosine Kinase Inhibitors (TKIs)

Drugs that inhibit the activity of tyrosine kinases, often used to treat CML.

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Allogenic Stem Cell Transplant

A type of stem cell transplant where the donor is someone other than the patient.

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Polymerase Chain Reaction (PCR)

A laboratory test that detects the presence of specific genetic material, such as the BCR-ABL1 fusion gene.

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CML - Underlying Genetic Basis

A genetic change acquired in a single pluripotent stem cell, resulting in the overproduction of myeloid precursors and mature effector cells in CML. It typically arises from the BCR-ABL fusion gene formed by a translocation between chromosomes 9 and 22.

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BCR-ABL Fusion Protein

A protein produced by the BCR-ABL fusion gene that is constitutively active, meaning it is constantly signaling for cell growth and division, leading to uncontrolled proliferation of myeloid cells.

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Constitutive Tyrosine Kinase Activity

A hallmark feature of the BCR-ABL fusion protein, it continuously activates pathways involved in cell division, inhibits DNA repair mechanisms, and disrupts apoptosis, making it difficult to eliminate the abnormal cells.

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Chronic Phase of CML

The first stage of CML, typically presenting with minimal or no symptoms. This phase is characterized by a gradual increase in white blood cells, primarily neutrophils.

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Accelerated Phase of CML

An intermediate stage of CML where the disease starts to progress more rapidly, with an increase in the number of immature white blood cells in the blood and a decrease in red blood cells and platelets.

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Blast Phase of CML

The most advanced and aggressive stage of CML, characterized by a large number of blasts in the blood, bone marrow, and other tissues. This phase is typically associated with a rapid decline in health and a poor prognosis.

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Full Blood Count (FBC)

A diagnostic laboratory test used to evaluate the type and number of blood cells. In CML, the FBC results typically reveal an increased white blood cell count with a high number of neutrophils, sometimes accompanied by a low red blood cell count (anemia).

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Hyperleukocytosis in CML

An indicator of the severity of CML, this refers to an extremely elevated white blood cell count in the blood. It commonly occurs in CML and can lead to complications such as clotting problems and organ damage.

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Study Notes

Haematological Malignancies - Part 3: Chronic Myeloid Leukaemia (CML)

  • CML is a type of cancer affecting the blood.
  • 15-20% of all leukemias are CML.
  • CML progresses more slowly than Acute Myeloid Leukemia (AML).
  • CML is characterised by an acquired genetic change in a single pluripotent stem cell.
  • This change leads to a massive overproduction of myeloid precursors and mature effector cells.

CML - Philadelphia Chromosome

  • The Philadelphia chromosome is a hallmark of CML.
  • It is formed by a translocation between chromosomes 9 and 22.
  • This translocation results in the BCR-ABL gene fusion.
  • The BCR-ABL protein results in constitutive tyrosine kinase activity and disrupts cell growth control.

CML - Symptoms

  • Typically asymptomatic in the chronic phase.
  • Symptoms in the chronic phase can include weight loss, and an enlarged spleen.
  • Other potential symptoms include:
    • Fatigue
    • Pallor
    • Raised metabolism
    • Neutrophil sequestration in spleen

CML - Laboratory Diagnosis

  • Complete Blood Count (FBC):

    • Shows anaemia, raised white blood cell count (hyperleukocytosis), and potentially abnormal platelet count or high numbers of neutrophils, monocytes and eosinophils.

  • Peripheral Blood Film: Analysis of blood cells under a microscope. Shows myeloid precursors.

  • Polymerase Chain Reaction (PCR): Used to detect the BCR-ABL1 fusion gene.

CML - Treatment

  • Tyrosine Kinase Inhibitors (TKIs): Effectively control the disease, but need to monitor regularly. Treatment effectiveness is monitored through bone marrow and blood analysis using BCR-ABL1 PCR.
  • Stem Cell Transplant: A potentially curative treatment option.

Leukemia Classification

  • Leukaemia is the most common type of white cell malignancy.
  • Leukaemia involves the accumulation of malignant white cells in the bone marrow or blood.
  • Malignant cells can arise from haemopoietic stem cells or progenitor cells.
  • Leukaemias are classified as either acute or chronic based on the rate of onset, the maturity of the cells and the aggressiveness of treatment needed.
    • Acute leukemias have a rapid onset, involve immature cells, and require aggressive treatment.
    • Chronic leukemias have a slower onset, involve more mature cells, and generally respond better to treatment.

Chronic Lymphocytic Leukaemia (CLL)

  • Most common leukemia in the West.
  • Characterised by clonal proliferation of B lymphocytes.
  • Often asymptomatic in early stages.
  • Diagnosis includes FBC, blood film, bone marrow biopsy and immunophenotyping.
  • Staging is important to determine prognosis. This includes Binet staging.

CLL - Symptoms

  • Common symptoms include fatigue, recurrent infections, weight loss, swollen lymph nodes (lymphadenopathy), and an enlarged spleen or liver (hepatosplenomegaly).
  • Other potential symptoms include:
    • Lethargy
    • Pallor
    • Bruising

CLL - Laboratory Diagnosis

  • Complete Blood Count (FBC): Shows low hemoglobin, elevated white blood cell count (especially lymphocytes), and sometimes low platelet count.

  • Peripheral Blood Film: Shows small lymphocytes and smudge cells.

  • Immunophenotyping: Identifies the type and characteristics of the cancerous B cells using flow cytometry.

  • Additional Tests: Includes low antibody levels, and genetic testing (cytogenetics). DAT (direct antiglobulin test) may identify autoantibodies.

CLL - Treatment

  • Treatment usually starts when symptoms become significant.
  • Common treatments include Rituximab (anti-CD20), fludarabine, and cyclophosphamide.
  • Corticosteroids can be used to aid recovery from pancytopenia.
  • Splenectomy may be considered for pain relief in some cases, if other treatments are unsuccessful.
  • Immunoglobulin replacement can improve quality of life.

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Haematological Malignancies - Part 3 PDF

Description

This quiz explores Chronic Myeloid Leukaemia (CML), a cancer of the blood characterized by the Philadelphia chromosome and the BCR-ABL gene fusion. Learn about its incidence, progression, and symptoms. Test your knowledge on this significant type of leukemia affecting patients.

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