Acute Myeloid Leukemia (AML)

Overview

Acute myeloid leukemia (AML) is a fast-progressing blood cancer that occurs when myeloid cells produced in the bone marrow multiply abnormally. The bone marrow normally produces red blood cells, white blood cells, and platelets. In AML, this process is disrupted: immature, non-functional cells (blast cells) multiply uncontrollably and block the production of healthy blood cells.

The word "acute" means the disease progresses rapidly. "Myeloid" indicates which cell type is affected; these cells belong to the myeloid series that forms red blood cells, platelets, and a portion of white blood cells. "Leukemia" defines cancer of the bone marrow and blood.

AML is the most common type of acute leukemia in adults. Hundreds of thousands of people worldwide are diagnosed with AML every year. The average age at diagnosis is 68 and the disease is seen more frequently with age. However, it can appear at any age, including in children.

AML is a serious disease and requires rapid treatment. However, advances in treatment are producing promising results, particularly in certain genetic subtypes. With early diagnosis and appropriate treatment, many patients can achieve remission (regression of the disease).

Symptoms

AML symptoms arise from the decrease in healthy blood cells. When red blood cells decrease, anemia develops; when white blood cells decrease, susceptibility to infection occurs; when platelets decrease, bleeding problems emerge. Symptoms generally develop suddenly and rapidly.

AML symptoms include the following:

• Fatigue and pallor. Anemia related to decreased red blood cells is the most common symptom. Extreme fatigue that does not go away with rest, weakness, shortness of breath, and pale skin appear. Even simple daily activities can become quite exhausting.
• Frequent infections. Non-functional white blood cells cannot protect the body from infections. For this reason, frequently recurring, non-healing, or unusually severe infections are seen. Fever is the most important sign of infection, but sometimes AML itself can also cause fever.
• Tendency to bleed and bruise. Small bumps lead to large bruises as a result of falling platelet counts. Excessive bleeding may occur when brushing teeth or with minor injuries. Nosebleeds, gum bleeding, and small red dots under the skin (petechiae) may be seen.
• Bone and joint pain. Pressure inside the bone increases as the bone marrow fills with blast cells. This leads to bone pain and tenderness, especially in the long bones and the sternum (breastbone) area.
• Shortness of breath. Shortness of breath can occur both due to anemia and sometimes as a result of blast cells accumulating in the lungs. It becomes more pronounced during physical activity.
• Loss of appetite and weight loss. Appetite decreases due to metabolic changes and the effects of the disease. Weight loss can occur without awareness.
• Abdominal swelling and fullness. A feeling of fullness, swelling, or discomfort in the abdominal area can occur as a result of the spleen and liver enlarging. A feeling of early satiety may be experienced.
• Lymph node swelling. Lymph nodes in the neck, armpits, or groin may enlarge, though this is less common in AML compared to lymphoma.
• Headache, vision problems, or neurological symptoms. In rare cases, blast cells can reach the brain and spinal fluid. Severe headache, blurred vision, balance problems, and numbness may appear.
• Gum swelling. In some subtypes of AML, particularly those of monocytic origin, noticeable swelling of the gums may be seen.

Many of these symptoms can overlap with other conditions. However, the development of these symptoms together and rapidly definitely requires consulting a doctor.

When to See a Doctor

See a doctor without delay in the following situations:

• If you have unexplained fatigue that does not go away with rest
• If you are experiencing frequently recurring or non-healing infections
• If excessive bleeding or bruising is seen with minor bumps or injuries
• If unexplained fever persists
• If bone or joint pain has become pronounced
• If you have noticed pinpoint bleeding under the skin (petechiae)
• If you feel swelling or fullness in the abdomen
• If you are experiencing sudden weight loss

The following symptoms require going to the emergency room:

• Very high fever and serious signs of infection
• Unstoppable bleeding
• Severe headache, confusion, or seizure
• Sudden shortness of breath

AML is a fast-progressing disease. When symptoms are noticed, seeing a doctor should happen within days.

Causes

AML develops as a result of mutations occurring in the DNA of cells in the bone marrow. These mutations prevent cells from maturing and cause them to multiply uncontrollably. Why the mutations form cannot be fully determined in most cases, but certain factors are known to trigger this process.

Causes that can lead to the development of AML are as follows:

• Previous chemotherapy or radiotherapy. Chemotherapy or radiotherapy applied for another cancer, especially those containing alkylating agents and topoisomerase II inhibitors, can increase AML risk. This is called "therapy-related AML" and can appear 5-10 years after treatment.
• Myelodysplastic syndrome (MDS) and other bone marrow diseases. MDS is a condition in which the bone marrow produces non-functional blood cells. It can transform into AML over time. Similarly, chronic myeloproliferative diseases can also progress to AML.
• High-dose radiation exposure. Exposure to nuclear accidents or atomic bomb explosions significantly increases AML risk. Radiotherapy can also create risk.
• Benzene exposure. Benzene, used in the petroleum industry and some chemical processes, damages the bone marrow and increases AML risk. Risk increases with prolonged high-level exposure.
• Smoking. Tobacco products contain benzene and other chemicals that can lead to leukemia. AML risk in smokers is significantly higher than in non-smokers.
• Genetic disorders. Genetic disorders such as Down syndrome (trisomy 21), Fanconi anemia, Bloom syndrome, and Li-Fraumeni syndrome increase AML risk.

Risk Factors

Risk factors for AML are as follows:

• Advanced age. AML risk increases with age. The vast majority of cases are seen in people over 60. However, AML can appear at any age.
• Male sex. AML is seen slightly more frequently in men compared to women. The exact reason for this is not known.
• Previous blood cancer or bone marrow disease. A history of MDS, chronic myeloid leukemia (CML), or myeloproliferative disease increases AML risk.
• History of chemotherapy or radiotherapy. Chemotherapy regimens containing alkylating agents and topoisomerase II inhibitors in particular, and high-dose radiotherapy, increase risk.
• High-dose radiation exposure. Occupational or environmental high-dose radiation exposure increases risk.
• Prolonged contact with chemical substances. Long-term occupational exposure to benzene and other industrial chemicals increases risk.
• Smoking. AML risk is significantly higher in smokers.
• Genetic syndromes. Various genetic syndromes, led by Down syndrome, increase risk.
• Family history. A history of AML in first-degree relatives may slightly increase risk, but AML is mostly not hereditary.

Diagnosis

AML is diagnosed through clinical evaluation, blood tests, and bone marrow examination. Because it is a fast-progressing disease, the diagnostic process is also carried out rapidly.

The methods used in AML diagnosis are as follows:

• Complete blood count (CBC). This is the first and most important step. Red blood cell, white blood cell, and platelet counts are measured. In AML, white blood cell count can be very high, normal, or low; red blood cells and platelets are generally low. Blast cells in the blood may be visible.
• Peripheral smear. A blood sample is examined under a microscope. Blast cells are visually detected and their characteristics are evaluated. This examination strengthens the suspicion of AML.
• Bone marrow biopsy and aspiration. This is essential for confirming the AML diagnosis. A bone marrow sample is taken from the pelvic bone with thin needles. The percentage of blast cells in the sample is calculated. At least 20 percent blast cells in the bone marrow is required for an AML diagnosis.
• Cytogenetic and molecular tests. The chromosomal structure of cells is examined from bone marrow or blood samples (karyotype analysis). Chromosomal abnormalities and gene mutations (such as FLT3, NPM1, IDH1/2) are critically important both for confirming diagnosis and for determining the prognosis and treatment approach.
• Flow cytometry (immunophenotyping). The cell type is determined by examining the surface proteins of blast cells. This test helps identify the subtype of AML.
• Imaging methods. Computed tomography (CT) or positron emission tomography (PET-CT) may be used to evaluate the extent of the disease. In cases of suspected brain involvement, brain MRI or lumbar puncture may be performed.
• Cardiac evaluation. Echocardiography (ECHO) is performed before treatment due to the effects of chemotherapy on the heart.

Treatment

AML treatment is individualized according to the genetic subtype of the disease, the patient's age, general health status, and response to treatment. The primary goal is to destroy blast cells to achieve complete remission and then make this remission permanent.

The methods used in AML treatment are as follows:

• Induction chemotherapy. This is the first and most intensive phase of treatment. The goal is to destroy blast cells in the bone marrow as rapidly as possible and achieve remission. The standard protocol is known as "7+3": seven days of cytosine arabinoside (cytarabine) and three days of an anthracycline group drug. During this intensive chemotherapy, the patient receives treatment as an inpatient. Close monitoring for infection and bleeding is required since treatment temporarily suppresses the bone marrow.
• Consolidation therapy. This is the treatment applied after remission is achieved to eliminate remaining leukemia cells. High-dose cytarabine is the most commonly used agent. It is applied in several cycles.
• Targeted therapies. When genetic tests reveal specific mutations, drugs targeting these mutations are used. These include midostaurin or gilteritinib for FLT3 mutation, ivosidenib for IDH1 mutation, enasidenib for IDH2 mutation, and the BCL-2 inhibitor venetoclax. These drugs can be used alone or in combination with low-dose chemotherapy, particularly in elderly patients or those not suitable for intensive chemotherapy.
• Allogeneic stem cell transplant (bone marrow transplant). This is applied in high-risk AML or when the disease relapses. Stem cells taken from a healthy donor are transplanted to the patient. The transplanted immune cells recognize and destroy remaining leukemia cells (graft-versus-leukemia effect). While this treatment has curative potential, it carries serious risks and requires finding a suitable donor.
• Special treatment for APL (M3). Acute promyelocytic leukemia (APL) is a special subtype of AML. A combination of all-trans retinoic acid (ATRA) and arsenic trioxide achieves a much higher cure rate compared to standard chemotherapy. Early diagnosis is life-saving.
• Supportive treatments. During chemotherapy, blood transfusions, platelet transfusions, antibiotics, antifungal drugs, and growth factors are administered as supportive treatment. These treatments are critically important for maintaining quality of life and preventing complications.
• Low-intensity treatments. Elderly patients or those with serious comorbidities may not be able to tolerate intensive chemotherapy. In these patients, hypomethylating agents such as azacitidine or decitabine in combination with venetoclax, or low-dose cytarabine, can be used.
• Clinical trials. AML research is advancing rapidly. New targeted drugs, immunotherapy approaches, and CAR-T cell therapies are being evaluated in clinical trials. Participation in clinical trials may be an important option for suitable patients.

Complications

AML itself and its treatment can lead to various complications.

Complications that may be seen in AML are as follows:

• Serious infections. Both the disease itself and chemotherapy-related immune suppression set the stage for serious bacterial, fungal, and viral infections. Neutropenic fever is the most commonly encountered emergency and requires rapid antibiotic treatment.
• Bleeding complications. Low platelet count increases the risk of internal bleeding. In the APL subtype, DIC (disseminated intravascular coagulation) can develop, leading to both bleeding and clotting problems.
• Leukostasis. At very high white blood cell counts, blood viscosity increases and vessels can become blocked. Vital organs such as the lungs and brain can be affected. Emergency leukapheresis (separation of blood cells) may be needed.
• Tumor lysis syndrome. When chemotherapy is started, large numbers of cells break down rapidly and their contents enter the bloodstream. This can lead to kidney failure, cardiac arrhythmia, and muscle cramps. It can largely be prevented with adequate fluid intake and medication.
• Organ toxicity. Chemotherapy drugs can damage the heart, liver, and kidneys. Anthracycline group drugs can affect the heart muscle in the long term.
• Relapse. This is the return of AML after remission. The risk of relapse is highest within the first two years after initial remission. In case of relapse, salvage chemotherapy and stem cell transplant are considered.
• Stem cell transplant complications. Graft versus host disease (GVHD), post-transplant infections, and organ toxicity are the most important complications.
• Psychological effects. The intensive treatment process, prolonged hospital stays, and uncertainty can lead to depression, anxiety, and post-traumatic stress disorder.

Living with AML

Receiving an AML diagnosis can turn life upside down. The intensive treatment process, long hospital stays, and uncertainty are extremely challenging for both patient and family. However, taking good care of yourself and building the right support systems during this process is an inseparable part of your recovery.

Physical Care During Treatment

You will need to stay in the hospital for several weeks during induction chemotherapy. During this time your body will be fighting both the disease and intensive treatment. Since your immune system is significantly suppressed, protecting yourself from infections should be your top priority.

Pay great attention to hand hygiene. Frequent and correct handwashing significantly reduces your risk of catching infections in the hospital environment. Ask visitors to show the same care. Avoid contact with sick or infected people. During periods when your immunity is suppressed, stay away from raw meat, raw eggs, and unpasteurized dairy products.

Pay special attention to oral care. Chemotherapy can damage the oral mucosa and lead to mouth sores (mucositis). Use a soft toothbrush, use alcohol-free mouthwash, and follow the oral care routine your doctor recommends. If you experience painful swallowing or mouth sores, report it immediately.

Nutrition is critically important during this process. Eating can become difficult due to nausea, loss of appetite, and taste changes. Meet with a nutritionist to create a personalized nutrition plan. Prefer small but frequent meals. High-protein foods support tissue repair. Adequate fluid intake protects the kidneys and helps prevent tumor lysis syndrome.

Coping Emotionally

Hearing a "cancer" diagnosis can be devastating. Shock, fear, anger, sadness, and denial are completely normal reactions. Rather than trying to suppress these feelings, sharing them with people you trust or with a professional is much healthier.

Don't hesitate to seek support from an oncology psychologist or psychiatrist. Psychological support programs developed for AML patients are available. Depression and anxiety are common effects of both the disease and the treatment; treating them improves your overall wellbeing and your adherence to treatment.

Accept the support of family and friends. Saying "yes" to "Can I help?" may seem difficult, but practical help like bringing food, dropping children off at school, or accompanying you to the hospital makes a big difference. Tell the people around you clearly how they can help.

Connecting with other AML patients and survivors can also be empowering. Support groups offer both practical knowledge and emotional solidarity. Someone sharing their own experience is the person who understands you best.

Managing Chemotherapy Side Effects

Nausea and vomiting are among the most commonly seen side effects. Modern antiemetic drugs can largely bring these symptoms under control. When you feel nauseous, take small, frequent meals and prefer cold or room-temperature foods. Remember that strong smells can trigger nausea.

Fatigue is one of the most challenging aspects of the chemotherapy process. This fatigue is different from ordinary tiredness; it may not go away with sleep. Save your energy for important activities and plan rest breaks. Light walking, if tolerated, can help reduce fatigue. Don't push yourself; listen to your body.

Hair loss is a side effect of some chemotherapy drugs. This is temporary and hair grows back after treatment ends. However, this change in appearance can be emotionally challenging. Researching wig or hat options before chemotherapy begins helps some patients feel more prepared.

Post-Hospital Period and Long-Term Follow-up

After remission is achieved, the process doesn't end. Consolidation treatments, stem cell transplant preparation, or maintenance treatments may continue. During this period, early detection of relapse is attempted through regular blood tests and bone marrow biopsies.

Your immunity may still be weak in the early period after discharge. Continue to avoid crowded environments, sick people, and raw foods. Review your vaccination schedule with your doctor; some vaccines should not be given during periods of immune deficiency.

Heart health should be monitored for long-term side effects. Anthracycline group drugs can affect the heart muscle years later. Regular cardiology checkups allow you to detect this risk early. Similarly, chemotherapy can affect fertility; discuss this topic openly with your doctor before treatment.

For Family and Caregivers

AML treatment is an extremely challenging process not only for the patient but also for family and caregivers. Time constantly spent in hospital, financial burden, uncertainty, and seeing your loved one like this can be draining.

Don't neglect your own care. Caregiver burnout is a real and serious condition. Sleep, nutrition, and short breaks maintain your productivity and health. If needed, seek support from a social worker or psychologist.

Establish open communication with the hospital team. Don't hesitate to ask anything you're curious about. Being informed about the treatment plan, expected side effects, possible complications, and long-term expectations empowers both you and the patient.

In Case of Relapse

Receiving news of relapse can be as shattering as the initial diagnosis, or even more so. While options may seem narrowed in this situation, treatment possibilities exist. Salvage chemotherapy, stem cell transplant, and clinical trials can be considered.

Getting a second specialist opinion is always a reasonable step. Being evaluated at a center experienced specifically in AML can broaden treatment options. Participation in clinical trials can provide access to new and promising treatments.

Preparing for Your Appointment

What you can do:

• Note in detail when symptoms started and how they progressed
• If you have previously received cancer treatment, specify which drugs you received and if radiotherapy was applied, the area and dose
• Share if there is a history of blood cancer or genetic syndrome in the family
• Convey your occupational chemical exposure history
• List all medications, vitamins, and supplements you are taking
• Write your questions in order of priority; appointment time may be limited

Questions you can ask your doctor are as follows:

• What subtype and genetic profile does my AML have?
• What is my risk group (low, intermediate, high)?
• What is the recommended treatment plan and why this plan?
• Will a bone marrow transplant be needed?
• When should we start searching for a suitable donor?
• Can I participate in clinical trials?
• What will the side effects of treatment be?
• What can I do to preserve my fertility?
• Can I work during the treatment process?
• What is the relapse risk after remission and how will we follow up?

Questions your doctor may ask you are as follows:

• When did symptoms start and how did they change?
• Have you previously been diagnosed with cancer and received treatment?
• Have you received chemotherapy or radiotherapy in the past?
• Is there a history of blood cancer or genetic disease in the family?
• Have you experienced occupational exposure to chemical substances or high-dose radiation?
• Do you smoke or have you smoked?
• How is your general health, do you have other illnesses?
• Which medications do you use regularly?
• Are you thinking about having children?