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    NPM1-mutated Acute Myeloid Leukemia

    NPM1-mutated acute myeloid leukemia (AML) is a blood and bone marrow cancer. A change (mutation) in the genetic material within the NPM1 gene causes the bone marrow to produce white blood cells too quickly. Because of this, the bone marrow can’t produce enough red blood cells and platelets.

    NPM1-mutated AML occurs primarily in adults, but it also occurs in children. Prompt diagnosis and treatment improve survival rate.

    What is NPM1-mutated acute myeloid leukemia?

    NPM1 is a gene that provides instructions to make a protein called nucleophosmin. Normally, nucleophosmin travels back and forth from the cell’s control center (nucleus) to the surrounding fluid (cytoplasm).

    Nucleophosmin participates in:

    • Aiding in cell division
    • Copying or repairing genetic material (deoxyribonucleic acid or DNA)
    • Making proteins

    When a second protein called ARF binds to nucleophosmin, the two proteins stay within the nucleus. Known as a tumor suppressor, ARF prevents uncontrolled cell growth and division.

    A mutation of the NPM1 gene results in the production of abnormal nucleophosmin. Abnormal nucleophosmin stays in the cytoplasm instead of the nucleus. This disrupts binding and tumor suppression by ARF, allowing for uncontrolled growth of immature white blood cells.

    NPM1-mutated acute myeloid leukemia facts and stats

    • Mutated NPM1 genes occur in around one-third of adult acute myeloid leukemia cases.
    • Mutated NPM1 genes cause 2 to 8% of childhood AML cases.
    • Five-year survival after intensive chemotherapy is around 60%.

    Causes and risk factors of NPM1-mutated acute myeloid leukemia

    This subtype of acute myeloid leukemia arises from a mutation in the NPM1 gene. Your parents do not pass the mutation down to you. The mutation happens after conception at some point during your lifetime. Scientists do not know exactly what triggers the genetic mutations.

    NPM1-mutated AML occurs more frequently in females than males.

    NPM1-mutated AML makes up about one-third of all AML cases. Risk factors for acute myeloid leukemia include:

    • Blood disorders such as aplastic anemia, myelodysplastic syndrome, and myeloproliferative neoplasm
    • Genetic disorders such as Down syndrome and Fanconi anemia
    • Occupational exposure to toxic chemicals such as benzene
    • Previous treatment with chemotherapy or radiation
    • Smoking

    Signs and symptoms of NPM1-mutated acute myeloid leukemia

    • Anemia (low red blood cell count)
    • Easy bleeding or bruising
    • Fatigue
    • Fever/frequent infections
    • Loss of appetite or weight
    • Shortness of breath
    • Weakness

    Diagnosing NPM1-mutated acute myeloid leukemia

    Your doctor examines you thoroughly and discusses your medical history to diagnose NPM1-mutated AML.

    Tests may include:

    • Blood tests: These tests assess the number of platelets, white blood cells, and red blood cells in a sample of your blood. Blood tests also detect inflammation, infection, and problems with the liver and kidneys.
    • Bone marrow aspiration or biopsy: Your doctor removes small bone marrow or bone tissue samples for analysis using a thin, hollow needle. Sample analysis confirms the presence of abnormal white blood cells.
    • Imaging: Imaging helps to assess cancer severity and finds affected lymph nodes and tumors. It also detects enlarged organs, such as the liver or spleen. Imaging may include:
      • Chest X-rays
      • Computed tomography (CT) scans
      • Magnetic resonance imaging (MRI) scans
      • Positron emission tomography (PET) scans
      • Ultrasounds (US)
    • Genetic testing: Genetic tests identify the acute myeloid leukemia subtype by confirming specific genetic mutations. In this case, genetic tests detect the NPM1 gene mutation. NPM1 mutations may occur along with mutations in other genes. The number of different mutations can affect how quickly the cancer may return (relapse). Results guide your doctor’s treatment recommendations.

    Treatments for NPM1-mutated acute myeloid leukemia

    Treatments for NPM1-mutated AML include:

    • Chemotherapy: Many drugs stop cancer growth or destroy cancer cells in different ways. Doctors give them in pill form or as injections into a vein, under the skin, or into the fluid around the spinal cord (intrathecally). Several chemotherapy drugs treat NPM1-mutated AML.
    • Clinical trials: Specific medical centers may offer clinical trials. These trials may provide eligible patients access to promising treatments under development. These treatments often aren’t widely available.
    • Immunotherapy: Immunotherapy improves your own immune system’s ability to fight off cancer.
    • Stem cell transplantation (bone marrow transplant): Your doctor may suggest a bone marrow transplant. Healthy stem cells (blood-forming cells in bone marrow) replace unhealthy ones in this procedure.

    Helpful resources

    Support can make a significant difference when you face a cancer diagnosis. You can connect with others who understand these challenges through our peer support programs. We offer an online support community and a mentoring program. We also have a directory of resources to help patients, families, and caregivers.

    Clinical Trials Hub: A resource for leukemia patients and caregivers

    Do you have questions about clinical trials? On our new Clinical Trials Hub learn how clinical trials are developed or if they are right for you. You can also use the new Search Tool to see if there is a current leukemia-focused trial you would qualify for.

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