Acute lymphoblastic leukemia

1) Disease Description (Causes and Symptoms)

• Definition and pathophysiology
  Acute lymphoblastic leukemia (ALL) is a blood cancer in which lymphoid precursor cells in the bone marrow become malignant and proliferate rapidly. The proliferation of malignant lymphoblasts suppresses normal hematopoiesis, increasing the risk of anemia, bleeding tendencies, and infection; leukemic cells may infiltrate the liver, spleen, lymph nodes, and extramedullary tissues, including the central nervous system.

• Main causes (risk factors)
  Known factors include genetic predisposition (Down syndrome, Klinefelter syndrome, Patau syndrome, Fanconi syndrome, etc.), exposure to radiation and chemicals (such as benzene), certain viral infections (e.g., an association with HTLV-1), and previous exposure to anticancer drugs. The exact disease mechanism is diverse and complex.

• Clinical symptoms (main symptoms)

  • Anemia: fatigue, pallor, shortness of breath
  • Bleeding due to thrombocytopenia: bruising, nosebleeds, gum bleeding
  • Frequent infections and fever (decreased neutrophil function)
  • Bone pain, joint pain
  • Hepatomegaly, splenomegaly, lymphadenopathy
  • Weight loss, weakness
  • Headache, vomiting, seizures, and focal neurological symptoms if the central nervous system is involved

2) Treatment Methods

• Overview of standard treatment

  1. Anticancer chemotherapy (systemic therapy): Treatment usually consists of several phases.
     • Induction: Rapidly reduces leukemic cells in the bone marrow with the goal of achieving complete remission.
     • Consolidation/intensification: Eliminates residual cells after induction.
     • Maintenance therapy: Low-intensity anticancer drugs are taken for several months to several years to prevent relapse.
  2. Central nervous system prophylaxis (CNS prophylaxis): Administration of anticancer drugs into the cerebrospinal fluid (spinal injection/intrathecal administration) or, in some cases, cranial radiation.
  3. Hematopoietic stem cell transplantation (bone marrow/hematopoietic stem cell transplantation): Autologous or allogeneic transplantation may be considered for high-risk patients or in cases of relapse/incomplete response, primarily allogeneic transplantation.
  4. Targeted/molecular therapy: For specific genetic abnormalities (e.g., BCR-ABL positivity), targeted drugs such as tyrosine kinase inhibitors may be used in combination.
  5. Immunotherapy: Advanced treatments such as CAR-T therapy may be used in relapsed/refractory disease (indications and accessibility are limited).

• Adjunctive and supportive treatment

  • Transfusions (red blood cells and platelets), antibiotics, antifungals, and antivirals (when infection is suspected), and growth factors (G-CSF) when indicated.
  • Symptomatic treatment such as antiemetics and analgesics.
  • Counseling on fertility preservation (risk of infertility due to chemotherapy and radiation).
  • Vaccines: Live vaccines are contraindicated during and immediately after treatment; discuss the timing of vaccination with the treating physician.

• Precautions and risk of complications

  • Major potentially fatal complications: infection (neutropenia) and bleeding (thrombocytopenia).
  • Long-term adverse effects of chemotherapy and radiation: cardiac, liver, and kidney toxicity, lung damage, secondary malignancies, decreased reproductive capacity, etc.
  • Frequent monitoring during treatment is necessary (blood counts, signs of infection, and organ function tests).

3) Checklist Before an Outpatient Visit (Including Suggested Items to Bring and Questions)

• Recommended items to bring

  • List of currently used medications and supplements (including doses and administration times)
  • Medical history and history of surgeries and treatments (including previous chemotherapy, radiation, and transplantation)
  • Results of previous blood tests, bone marrow tests, and cytogenetic/molecular tests (copies if possible)
  • Allergy and transfusion history (including transfusion reactions)
  • Record of recent fever, bleeding, bruising, and infection symptoms (date of symptom onset and course)
  • Family history (particularly blood disorders and genetic diseases)

• Items to show the doctor immediately at the outpatient visit

  • Current symptoms (fever, bleeding, shortness of breath, etc.) and records of changes in symptoms
  • Medication adherence and adverse effects

4) Examples of General Questions to Ask the Doctor

• What is the goal of this treatment (complete remission, long-term survival, or symptom relief)?
• What are the major expected adverse effects, and how can they be managed?
• What precautions should be taken in daily life (exercise, work, and diet) during treatment?
• What symptoms require immediate contact and what should be done if there is a risk of infection?
• How will treatment affect fertility, and what fertility preservation options (sperm, eggs, and embryo transfer) are available?

5) Examples of Disease-Specific Questions

• What is the detailed classification of leukemia in this patient (e.g., B-ALL vs. T-ALL), and what are the cytogenetic and molecular test results? How do they affect treatment selection?
• What is the plan for minimal residual disease (MRD) testing, and how will treatment be changed according to MRD criteria (e.g., criteria for recommending transplantation)?