Acute myeloid leukemia

Disease Description (Causes and Symptoms)

• Definition and pathophysiology: A form of acute leukemia (acute myeloid leukemia, AML) in which myeloblasts undergo clonal malignant proliferation in the bone marrow, suppress normal hematopoiesis, and invade the peripheral blood and multiple organs. As a diagnostic criterion, it is classified as this subtype when myeloblasts account for ≥20% of the bone marrow or peripheral blood.
• Major causes and risk factors: No single clear cause is known. These include genetic predisposition (Down syndrome, Fanconi anemia, etc.), exposure to high-dose radiation, chemicals such as benzene and pesticides, certain anticancer drugs (such as alkylating agents and topoisomerase II inhibitors), smoking, and a history of other leukemia or myelodysplastic syndrome.
• Major symptoms: Anemia (fatigue, pallor, shortness of breath), bleeding, bruising, gum bleeding, and nosebleeds due to thrombocytopenia, infections and fever (due to impaired neutrophil function), weight loss, enlargement of the liver and spleen, enlarged lymph nodes, gum enlargement (particularly in some subtypes), and thrombosis caused by hyperleukocytosis/leukemia cells (when the white blood cell count is markedly elevated).

Treatment Methods

• Treatment principles after diagnosis: Treatment proceeds from induction therapy → post-remission (consolidation/intensification) therapy → hematopoietic stem cell transplantation (HSCT) when necessary, based on genetic and cytogenetic findings and the patient’s age and underlying diseases.
• Standard chemotherapy (induction therapy): Remission is generally induced with the “7+3” regimen (7 days of continuous infusion of cytarabine + 3 days of an anthracycline). The remission rate in adults is generally in the range of 60–80% (with differences according to age and risk).
• Post-remission (consolidation/intensification) therapy: High-dose cytarabine regimens and others are used, and whether allogeneic HSCT is recommended is determined according to the risk of relapse and chromosomal findings.
• Targeted therapies and small-molecule drugs: For patients with FLT3 mutations, midostaurin is administered concurrently during induction and consolidation, and gilteritinib is used in relapsed or refractory disease; for IDH1/2 mutations, ivosidenib/enasidenib may be used; for older patients or those unable to tolerate intensive treatment, venetoclax + low-dose cytarabine or combination therapy with hypomethylating agents (azacitidine/decitabine), among others, may be used.
• Acute promyelocytic leukemia (APL, M3): Differentiation-induction therapy including ATRA (retinoic acid) and arsenic trioxide (ATO) is standard, and management of differentiation syndrome and bleeding is important.
• Hematopoietic stem cell transplantation (HSCT): Allogeneic transplantation is used with curative intent in high-risk or relapsed patients (and may substantially improve long-term survival). Autologous transplantation may be considered in some cases.
• Adjunctive and supportive care: Transfusions (red blood cells and platelets), infection prevention and treatment (broad-spectrum antibiotics and antifungals), prevention of TLS (tumor lysis syndrome) (fluids and uric acid-lowering agents/rasburicase), and the use of growth factors are determined according to the situation.
• Radiation therapy: Used only in limited situations, such as local infiltration (tumorous lesions) or preparation before transplantation.
• Precautions (during treatment and self-care): The risk of infection and bleeding is high due to severe bone marrow suppression — seek medical attention immediately if fever or bleeding occurs. If symptoms suggestive of differentiation syndrome occur while using ATRA (fever, shortness of breath, weight gain, hypoxia, etc.), report them immediately. Before and during treatment, do not stop or add medications or supplements on your own (due to risks such as drug interactions and bleeding).

Checkpoints Before an Outpatient Visit (Including Preparations and Example Questions)

• Items to bring: A list of currently used medications, nutritional products, and supplements (including doses and administration times), a history of previous chemotherapy and radiation therapy, allergy history, recent blood, bone marrow, and genetic test results (printed copies if possible), records of changes in body temperature and weight, and photographs or dated records of bleeding, bruising, or infection symptoms.
• Symptom records: The time and temperature when fever occurs, bleeding (location and frequency), changes in gum bleeding, nosebleeds, and skin bruising, shortness of breath, chest pain, abdominal distension (suggestive of liver or spleen enlargement), changes in weight, and decreased appetite.
• Useful information to provide during the outpatient visit: Recent infections and antibiotic use, recent contacts with people with infectious diseases, the possibility of pregnancy/whether breastfeeding, and, if the patient is a candidate for HSCT, whether family or unrelated donors may be available.

Examples of General Questions to Ask the Doctor

• “What chromosomal or genetic findings that affect prognosis (for example, FLT3, NPM1, IDH1/2, etc.) were found in my test results? What treatment options are available based on those findings?”
• “What induction and consolidation treatment plan is recommended, and what are the expected treatment and hospitalization periods?”
• “What complications should I be most careful about during treatment, and what should I do immediately if an emergency situation such as fever or bleeding occurs?”
• “If hematopoietic stem cell transplantation is necessary, what benefits and risks can be expected, including survival rates and complications such as graft-versus-host disease?”

Examples of Disease-Specific Questions

• “What were the results of the molecular genetic tests for FLT3, NPM1, CEBPA, IDH1/2, and others? Can I receive targeted therapy for the mutation?”
• “If I have findings of APL (acute promyelocytic leukemia) (or another specific subtype), should ATRA/ATO therapy be started immediately? What is the risk of differentiation syndrome, and how is it prevented and treated?”