Diagnosing Acute Myeloid Leukemia (AML)
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Diagnosing Acute Myeloid Leukemia (AML)

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Questions and Answers

What are the two key criteria used to confirm the diagnosis of Acute Myeloid Leukemia (AML)?

The presence of 20% or more blast cells in the bone marrow and the detection of specific genetic mutations.

What is the primary goal of induction therapy in the treatment of AML?

To achieve remission.

What is the main difference between autologous and allogenic stem cell transplantation in the treatment of AML?

Autologous transplantation uses the patient's own stem cells, while allogenic transplantation uses donor stem cells.

What is the name of the genetic mutation that can be targeted by specific inhibitors in the treatment of AML?

<p>FLT3.</p> Signup and view all the answers

What is the term for a type of chemotherapy that uses high-dose chemotherapy followed by stem cell transplantation?

<p>Myeloablative.</p> Signup and view all the answers

What is a common risk factor for developing AML?

<p>Age, with the risk increasing after 60.</p> Signup and view all the answers

What is a common symptom of AML?

<p>Fatigue.</p> Signup and view all the answers

What is the term for the process of replacing cancer cells with healthy donor cells through stem cell transplantation?

<p>Allogenic stem cell transplantation.</p> Signup and view all the answers

What is the primary goal of consolidation chemotherapy in the treatment of AML, and how does it differ from induction chemotherapy?

<p>The primary goal of consolidation chemotherapy is to prevent relapse, whereas induction chemotherapy aims to induce remission. Consolidation chemotherapy typically involves high-dose cytarabine, whereas induction chemotherapy involves a combination of cytarabine and an anthracycline.</p> Signup and view all the answers

How do FLT3 inhibitors and IDH1/2 inhibitors work in the treatment of AML, and what specific types of AML do they target?

<p>FLT3 inhibitors (e.g., midostaurin) and IDH1/2 inhibitors (e.g., ivosidenib) work by inhibiting specific proteins or genes involved in AML. FLT3 inhibitors target FLT3-mutated AML, while IDH1/2 inhibitors target IDH1/2-mutated AML.</p> Signup and view all the answers

What is the role of supportive care in the treatment of AML, and what types of symptoms or side effects does it typically manage?

<p>Supportive care manages symptoms and side effects of AML, including fatigue, shortness of breath, easy bruising or bleeding, frequent infections, weight loss, and pain, among others. It also involves blood transfusions, antibiotics, and pain management.</p> Signup and view all the answers

What is the significance of bone marrow biopsy in the diagnosis of AML, and how does it differ from a peripheral blood smear?

<p>A bone marrow biopsy examines bone marrow cells, while a peripheral blood smear examines blood cells. The bone marrow biopsy is important for diagnosing AML, as it provides information about the bone marrow cells, which can help identify the presence of cancer cells.</p> Signup and view all the answers

What is the role of cytogenetic analysis in the diagnosis of AML, and how do FISH and PCR testing contribute to this process?

<p>Cytogenetic analysis detects chromosomal abnormalities and genetic mutations in AML cells. FISH (fluorescence in situ hybridization) and PCR (polymerase chain reaction) testing are used to detect specific chromosomal abnormalities and genetic mutations, respectively.</p> Signup and view all the answers

How do imaging tests, such as CT or PET scans, contribute to the diagnosis of AML, and what types of disease manifestations do they typically detect?

<p>Imaging tests, such as CT or PET scans, evaluate organ involvement or detect extramedullary disease in AML. They can detect disease manifestations such as lymph node enlargement, liver or spleen enlargement, or bone involvement.</p> Signup and view all the answers

Study Notes

Diagnosis

  • Acute Myeloid Leukemia (AML) diagnosis involves a combination of:
    • Physical examination
    • Medical history
    • Laboratory tests:
      • Complete Blood Count (CBC) to evaluate blood cell counts
      • Blood smear to examine blood cell morphology
      • Bone marrow biopsy to examine bone marrow cells
      • Immunophenotyping to identify specific cell surface markers
    • Genetic testing to identify specific mutations (e.g., FLT3, NPM1)
  • Diagnosis is typically confirmed by:
    • Presence of 20% or more blast cells in the bone marrow
    • Detection of specific genetic mutations

Treatment Options

  • Treatment goals:
    • Induction therapy: achieve remission
    • Consolidation therapy: maintain remission
    • Maintenance therapy: prevent relapse
  • Treatment options:
    • Chemotherapy:
      • Combination of cytotoxic drugs (e.g., cytarabine, daunorubicin)
      • Targeted therapy (e.g., FLT3 inhibitors)
    • Supportive care:
      • Blood transfusions
      • Infection management
    • Stem cell transplantation (see below)

Stem Cell Transplantation

  • Autologous stem cell transplantation:
    • High-dose chemotherapy followed by infusion of patient's own stem cells
    • Aims to remove cancer cells and restore healthy bone marrow
  • Allogenic stem cell transplantation:
    • High-dose chemotherapy followed by infusion of donor stem cells
    • Aims to replace cancer cells with healthy donor cells
  • Stem cell transplantation can be:
    • Myeloablative (high-dose chemotherapy)
    • Non-myeloablative (lower-dose chemotherapy)

Risk Factors

  • Increased risk of AML:
    • Age (risk increases after 60)
    • Genetic mutations (e.g., Down syndrome, Fanconi anemia)
    • Exposure to:
      • Radiation (e.g., radiation therapy)
      • Chemicals (e.g., benzene)
    • Previous chemotherapy or radiation therapy
    • Family history of AML

Symptoms

  • Common symptoms:
    • Fatigue
    • Weakness
    • Shortness of breath
    • Easy bruising or bleeding
    • Frequent infections
    • Weight loss
    • Enlarged lymph nodes or spleen
  • Symptoms may vary depending on the location and extent of cancer cell infiltration

Diagnosis

  • AML diagnosis involves a combination of physical examination, medical history, laboratory tests, and genetic testing
  • Laboratory tests include:
    • Complete Blood Count (CBC) to evaluate blood cell counts
    • Blood smear to examine blood cell morphology
    • Bone marrow biopsy to examine bone marrow cells
    • Immunophenotyping to identify specific cell surface markers
  • Genetic testing is used to identify specific mutations, such as FLT3 and NPM1
  • Diagnosis is confirmed by:
    • Presence of 20% or more blast cells in the bone marrow
    • Detection of specific genetic mutations

Treatment Options

  • Treatment goals include achieving remission, maintaining remission, and preventing relapse
  • Treatment options include:
    • Chemotherapy, which may involve:
      • Combination of cytotoxic drugs (e.g., cytarabine, daunorubicin)
      • Targeted therapy (e.g., FLT3 inhibitors)
    • Supportive care, which includes:
      • Blood transfusions
      • Infection management
    • Stem cell transplantation, which may be:
      • Autologous (using patient's own stem cells)
      • Allogenic (using donor stem cells)

Stem Cell Transplantation

  • Autologous stem cell transplantation involves:
    • High-dose chemotherapy
    • Infusion of patient's own stem cells to restore healthy bone marrow
  • Allogenic stem cell transplantation involves:
    • High-dose chemotherapy
    • Infusion of donor stem cells to replace cancer cells with healthy donor cells
  • Stem cell transplantation can be:
    • Myeloablative (high-dose chemotherapy)
    • Non-myeloablative (lower-dose chemotherapy)

Risk Factors

  • Increased risk of AML is associated with:
    • Age (risk increases after 60)
    • Genetic mutations (e.g., Down syndrome, Fanconi anemia)
    • Exposure to:
      • Radiation (e.g., radiation therapy)
      • Chemicals (e.g., benzene)
    • Previous chemotherapy or radiation therapy
    • Family history of AML

Symptoms

  • Common symptoms of AML include:
    • Fatigue
    • Weakness
    • Shortness of breath
    • Easy bruising or bleeding
    • Frequent infections
    • Weight loss
    • Enlarged lymph nodes or spleen
  • Symptoms may vary depending on the location and extent of cancer cell infiltration

Treatment Options

  • Chemotherapy is the most common treatment for AML, aiming to kill cancer cells
  • Induction chemotherapy involves cytarabine and anthracycline (daunorubicin or idarubicin) to induce remission
  • Consolidation chemotherapy involves high-dose cytarabine to prevent relapse
  • Stem cell transplant can be autologous or allogeneic, replacing cancerous bone marrow with healthy stem cells
  • Targeted therapy inhibits specific proteins or genes involved in AML
  • FLT3 inhibitors (e.g., midostaurin) are used for FLT3-mutated AML
  • IDH1/2 inhibitors (e.g., ivosidenib) are used for IDH1/2-mutated AML
  • Supportive care manages symptoms and side effects, including blood transfusions, antibiotics, and pain management

Symptoms

  • Fatigue is a common symptom of AML
  • Shortness of breath is a common symptom of AML
  • Easy bruising or bleeding is a common symptom of AML
  • Frequent infections are a common symptom of AML
  • Weight loss is a common symptom of AML
  • Bone pain is a less common symptom of AML
  • Swollen lymph nodes are a less common symptom of AML
  • Enlarged liver or spleen are less common symptoms of AML
  • Confusion or dizziness are less common symptoms of AML
  • Headaches or seizures are rare symptoms of AML

Diagnosis

  • Complete Blood Count (CBC) evaluates blood cell counts
  • Peripheral blood smear examines blood cells
  • Bone marrow biopsy examines bone marrow cells
  • Fluorescence in situ hybridization (FISH) detects chromosomal abnormalities
  • Polymerase chain reaction (PCR) detects genetic mutations
  • CT or PET scans evaluate organ involvement or detect extramedullary disease
  • X-rays evaluate bone involvement

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Learn about the steps involved in diagnosing Acute Myeloid Leukemia (AML), including physical examination, medical history, laboratory tests, and genetic testing. Confirm the diagnosis with this quiz!

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