Understanding acute myeloid leukemia

Acute myeloid leukemia is a rare aggressive cancer of the blood and bone marrow and is the most common form of acute leukemia in adults.

In healthy bone marrow, stem cells (immature cells) go on to form all of the blood cells we need to function normally. Blood stem cells can mature into more specified myeloid or lymphoid stem cells. A myeloid stem cell can then give rise to three different types of mature blood cell. These include

 – give blood its red color and are responsible for carrying oxygen from the lungs to all parts of the body;

 – help the blood to clot and prevent excessive bleeding.

In patients with acute myeloid leukemia, one or more of these blood cell types do not develop as they should, which is due to certain 

, known as genetic abnormalities. These abnormal cells are called leukemia cells and lack normal functionality. The leukemia cells then multiply, filling up the bone marrow and spilling into the blood, where they can spread to other parts of the body, such as the brain, skin, spleen, and gums. As a result, the production of normal blood cells is affected, and the bone marrow cannot make enough healthy blood cells.

What is acute myeloid leukemia?

The most common signs and symptoms of acute myeloid leukemia include shortness of breath, bruising, fever, weakness, and infection. Usually, acute myeloid leukemia develops quickly and worsens unless it is treated. The animation below provides a summary of the signs and symptoms of acute myeloid leukemia.

What are the causes of acute myeloid leukemia?

 cause a blood cell to become abnormal and develop into a leukemia cell. However, certain risk factors may increase the chance of developing acute myeloid leukemia. Having one or more of these risk factors does not mean you will develop acute myeloid leukemia, and someone without any of these risk factors can still develop acute myeloid leukemia. The possible risk factors for acute myeloid leukemia include the following:

Old age (acute myeloid leukemia is more common as people grow older, but acute myeloid leukemia can develop at any age)

Sex (acute myeloid leukemia is more common in men than women)

Being exposed to high-dose radiation or chemicals, such as benzene (an industrial solvent) and some detergents

Previously having chemotherapy or radiotherapy for other cancers

Previously having a blood disease, such as a myelodysplastic syndrome

Acute myeloid leukemia is not an inherited condition and cannot be transferred from one person to another.

Causes & symptoms

Several tests that examine cells in the blood and bone marrow are used to detect and diagnose acute myeloid leukemia. These tests include the following:

This test uses a microscope to check the number of blood cells and to look for abnormal blood cells. An abnormal blood test can suggest that a person has leukemia, but further tests are required to determine a diagnosis.

A bone marrow sample is taken from inside the bone and examined under a microscope to look for changes in the blood cells. This test can be used to diagnose leukemia and to see how well treatment is working.

Our genetic code (DNA) is packaged into structures called chromosomes—tests can identify if there are any 

. Abnormalities in chromosomes are observed in around 50–60% of patients who are diagnosed with acute myeloid leukemia. These changes can disrupt the normal processes in blood stem cells and cause a cell to make too many, too few, or defective proteins. This means the stem cells do not develop into healthy blood cells and can cause uncontrolled growth of leukemia cells.

Normally, our cells have 23 pairs of chromosomes. In acute myeloid leukemia, part or all of chromosomes 5 or 7 may be missing, there may be an extra chromosome, or a section of a chromosome may have moved. Identifying these chromosomal changes can determine the specific type of acute myeloid leukemia a patient has, allowing leukemia specialists to decide on the most appropriate treatment.

This test can be used to examine the different kinds of proteins, known as antigens, on the surface of acute myeloid leukemia cells. This can help determine the specific type of acute myeloid leukemia a patient has and help leukemia specialists decide on the most appropriate treatment.

Changes in the structure and function of certain genes (genetic abnormalities) could be the cause of abnormal leukemia cell development. Identifying these, using molecular studies, can determine the specific type of acute myeloid leukemia a patient has and help leukemia specialists decide on the most appropriate treatment.

Cancer.Net. Leukemia - Acute Myeloid - AML - Childhood: Diagnosis. 

https://www.cancer.net/cancer-types/leukemia-acute-myeloid-aml-childhood/diagnosis

Kumar CC. Genetic abnormalities and challenges in the treatment of acute myeloid leukemia. 

Diagnosis

Research into acute myeloid leukemia has advanced in recent years, making it clear that acute myeloid leukemia is not a single disease, but rather a disease that can take one of many forms. The type of acute myeloid leukemia a patient has can depend on:

how developed the abnormal leukemia cells are at 

the shape (morphology) of the leukemia cells and specific markers (proteins) on their surface;

how much they differ from normal, healthy blood cells;

the genetic/chromosomal abnormality present; and

The type of acute myeloid leukemia a patient has can impact how well certain treatments work; knowing your acute myeloid leukemia type can guide personalized treatment decisions.

Genetic changes in acute myeloid leukemia

Changes to specific genes, known as mutations, are identified in many cases of acute myeloid leukemia and can result in specific types of acute myeloid leukemia. These mutations can help abnormal cells grow in an out-of-control manner. Some mutations are associated with better outcomes, while others are thought to contribute to more aggressive forms of acute myeloid leukemia and poorer outcomes.

Changes in the following genes are most commonly observed in patients with acute myeloid leukemia: 

FLT3, IDH1, IDH2, NPM1, DNMT3A, CEBPA, TET2

. It is important to know whether one or more of these genes are abnormal in your acute myeloid leukemia cells, as this can identify the type of acute myeloid leukemia you have and help to tailor a unique treatment for you.

Ask your healthcare professional about your specific type of acute myeloid leukemia.

Chromosomal changes in acute myeloid leukemia 

 that can cause specific types of acute myeloid leukemia. These can affect your outlook and how you respond to treatment. They include

 – when part of a chromosome breaks off and sticks to a different chromosome;

 – when part of a chromosome is lost, possibly leading to the loss of a gene that controls the growth of blood cells;

 – when the chromosome is flipped, resulting in faulty ‘instructions’ within the blood cell, which can lead to abnormalities; and

 – when there is an extra chromosome that can produce an abnormal gene.

Knowing the chromosomal changes that are present in your acute myeloid leukemia can help leukemia specialists decide the best treatment option for you.

Acute promyelocytic leukemia is a unique type of acute myeloid leukemia, which is most common in adults between 20 and 50 years of age.

 Acute promyelocytic leukemia is characterized by a very specific chromosomal change, whereby sections of chromosomes 15 and 17 switch, forming an abnormal fusion gene called PML/RARα. This abnormal gene can lead to the overproduction of immature, non-functional white blood cells called promyelocytes. These promyelocytes build up in the bone marrow and reduce the number of mature healthy blood cells.

1. Cancer.Net. Leukemia - Acute Myeloid - AML: Subtypes. 

https://www.cancer.net/cancer-types/leukemia-acute-myeloid-aml/subtypes

2. Leukemia & Lymphoma Society. Acute Promyelocytic Leukemia Facts. 

https://www.lls.org/sites/default/files/National/USA/Pdf/Publications/APL_FactSheet_10_15FINAL.pdf

Types

Acute myeloid leukemia causes changes to blood cell counts. The aim of any treatment for acute myeloid leukemia is to help control the abnormal leukemia cells and restore a balance of healthy blood cells.

Acute myeloid leukemia cannot be defined as a single disease, your 

 will vary depending on the type of acute myeloid leukemia you have. Therefore, a variety of therapies are used for different 

 of acute myeloid leukemia and result in different outcomes.

Know AML has put together the animation below summarizing the treatment options available to people with acute myeloid leukemia.

The standard treatment for most people with acute myeloid leukemia is chemotherapy. Chemotherapy involves using drugs to destroy abnormal leukemia cells, hopefully leading to 

. Chemotherapy is usually given in two main phases: induction and consolidation, which are explained in more detail below.

Induction chemotherapy is used in the first phase of treatment, it aims to kill abnormal leukemia cells and stop them from multiplying in the blood and bone marrow. The most common induction chemotherapies include cytarabine and an anthracycline drug (daunorubicin, idarubicin, or mitoxantrone); these are mostly offered to people under the age of 60, or people aged over 60 years who are considered ‘fit’. Another treatment used for induction chemotherapy is the combination of daunorubicin and cytarabine (CPX-351), which is approved in the United States and Europe to treat people with specific types of acute myeloid leukemia, including therapy-related acute myeloid leukemia and acute myeloid leukemia with myelodysplasia-related changes. Induction chemotherapy can sometimes be administered with other drugs that target specific changes on or in leukemia cells, known as targeted therapies. 

Consolidation chemotherapy aims to kill and remove abnormal leukemia cells that may remain after induction chemotherapy, but that cannot be detected. This reduces the risk of the leukemia cells multiplying and the subsequent return of acute myeloid leukemia. The consolidation phase involves further treatment with chemotherapy, often with the same drugs that were used in the induction phase.

Allogeneic stem cell transplantation, using a matched sibling or unrelated donor, is increasingly offered to patients with acute myeloid leukemia with disease likely to relapse if they receive only intensive chemotherapy. In patients with no suitable matched sibling or when an unrelated donor cannot be found, transplantation using stem cells from either a family member who is not a complete match, or from umbilical cord blood, may be considered. While transplantation reduces the chances of relapse, it can cause several side effects, such as infections, graft-versus-host disease, and other medical issues that can occur months or years after the transplant (“late effects”). However, recent advances in transplant technology, such as improvements in the prevention of GvHD prophylaxis and the use of reduced-intensity conditioning regimens, are resulting in fewer side effects.

What treatments are available for people who are ineligible for intensive chemotherapy?

Intensive chemotherapy is often not well tolerated by patients over the age of 75 years, or patients with other medical issues (comorbidities), who represent the majority of patients diagnosed with acute myeloid leukemia. The most important treatment advance has been the introduction of venetoclax, a Bcl-2 inhibitor, which alongside either azacitidine or low-dose cytosine arabinoside, has led to more patients achieving remission and prolonged survival. 

relapsed or refractory acute myeloid leukemia

Currently, treatment approaches for relapsed or refractory acute myeloid leukemia depend on a risk–benefit assessment, which analyzes the likely benefit of further therapy as well as the potential risks associated with it. The treatment decision is based on a number of factors, including age, length of remission, genetics, any previous stem cell transplant, general health status, and the patient’s wishes.

If considered eligible for intensive chemotherapy, treatment options include the following:

IDAC (intermediate-dose cytarabine) with filgrastim and either cladribine, fludarabine, or clofarabine

IDAC with etoposide with or without filgrastim

CLAG-M (cladribine, cytarabine, and mitoxantrone)

FLAG-IDA (fludarabine, cytarabine, filgrastim, and idarubicin)

Clofarabine, cytarabine, filgrastim, and idarubicin

HDAC (high-dose cytarabine) with or without idarubicin, daunorubicin, or mitoxantrone (for people who have not previously received this combination)

If intensive chemotherapy is not considered appropriate, the following treatment options are recommended:

Venetoclax in combination with an HMA or LDAC

Enrollment into a clinical trial may also be an option for people with relapsed or refractory acute myeloid leukemia.

Maintenance therapy refers to lower intensity treatments that may be offered to you following an intensive treatment course or if you are unable to complete intensive treatment. The aim of maintenance therapy is to lower the risk of relapse and prolong survival, while minimizing side effects.

What are the advances in formulations of chemotherapy?

When talking about medicines, a formulation refers to how the different components are combined to make a product that can be given easily. Advances in chemotherapy for acute myeloid leukemia include attempts to make the treatment safer, more effective, or more convenient. With this in mind, improvements to traditional chemotherapy have been developed, such as:

: An oral formulation of azacitidine that was the first approved oral maintenance treatment for acute myeloid leukemia. 

: A formulation of combined daunorubicin and cytarabine that is more easily absorbed by the body.

 A formulation of combined oral decitabine and cedazuridine that is equivalent to intravenous decitabine.

In recent years, a number of new drugs have been developed to target specific markers found in or on leukemia cells. These advances have resulted in targeted drugs, which work differently to standard chemotherapy and can be useful if particular abnormalities have been identified. Generally, targeted therapies have higher specificity and aim to minimize side effects. Some approved targeted treatments for different types of acute myeloid leukemia are shown below.

Approximately 30% of people with acute myeloid leukemia have abnormal changes in a gene called 

. These genetic changes give rise to different forms of the FLT3 protein, which can lead to the growth of leukemia cells.

 A drug that blocks the function of the FLT3 protein. Quizartinib can be used in combination with standard induction and consolidation, and alone as a maintenance therapy following consolidation therapy in patients with a specific type of alteration in the 

gene referred to as internal tandem duplication.

: A drug that targets the abnormal FLT3 protein and blocks its function. Midostaurin can be used with standard chemotherapy to treat people who have abnormal changes in the 

: A drug that binds to the FLT3 protein and blocks its function. Gilteritinib can be used to treat people who have abnormal changes in the 

 gene who have undergone stem cell transplantation.

In some people with acute myeloid leukemia, abnormal changes are detected in the 

 genes, which interfere with normal cell processes.

: A drug that blocks the function of the IDH1 protein in leukemia cells. Ivosidenib can be used to treat people who have abnormal changes in the 

Another drug that blocks the function of the IDH1 protein in leukemia cells, which can be used to treat people who have relapsed/refractory AML with abnormal changes in the 

: A drug that blocks the function of the IDH2 protein in leukemia cells. Enasidenib can be used to treat people with abnormal changes in the 

Bcl‑2 is a protein found inside cells that helps leukemia cells to survive.

: A drug that blocks the Bcl‑2 protein, resulting in increased leukemia cell death. Venetoclax can be used to treat people who are aged 75 years and older or those who have other medical conditions that prevent the use of standard chemotherapy.

In a cell, the ‘hedgehog pathway’ is a finely tuned network of signaling molecules that are important in early-life development. In acute myeloid leukemia, disturbances in this pathway can give rise to cells that are resistant to certain treatments, helping leukemia cells survive.

: A drug that blocks the hedgehog pathway, which can be used to treat people aged 75 years and older or with medical conditions that prevent the use of standard chemotherapy.

Antibody–drug conjugates contain an antibody (a synthetic immune protein that recognizes a specific target on leukemia cells) and an anticancer drug. The antibody is used to guide the drug to the leukemia cells, where it can destroy them.

: A drug made up of an antibody that specifically recognizes CD33 (a protein found on leukemia cells) and a chemotherapy drug.

 are medical studies involving people, they are a key step towards optimizing treatments for different diseases. A clinical trial may be designed with the aim of improving current therapies or to investigate how safe and effective a new treatment is. There are various ongoing clinical trials investigating treatment options for acute myeloid leukemia.

A patient with acute myeloid leukemia may not respond to the therapies that are currently approved, and for certain types of acute myeloid leukemia, there are very few treatment options available. Therefore, taking part in a clinical trial may be the best option for some people and could provide the opportunity for effective disease treatment/management.

What treatment side effects may be expected?

Treatments for any medical condition can cause side effects. The side effects you may experience can vary depending on the treatment (i.e., chemotherapy/targeted therapy) and your overall health. For most people, side effects are temporary and will go away after treatment has finished or following changes to the treatment regimen, such as altered dosing.

Common side effects of treatment for acute myeloid leukemia include tiredness, increased risk of infection (impaired immune system), nausea, vomiting, hair loss, rashes, and low levels of red blood cells (anemia). Your leukemia specialist should advise you of the common side effects associated with any treatment you may receive.

If you have any questions or concerns regarding treatment options, clinical trials, or side effects, reach out to your leukemia specialist.

Treatment

The term ‘prognosis’ describes the predicted outcome of a medical condition, including how it may respond to 

 in a particular patient. For example, if a patient has a condition with no known treatments, they may be described as having a poor prognosis.

In acute myeloid leukemia, prognosis differs from person to person, and there are a number of factors that can influence how a patient progresses, including:

 you have, particularly the genetic/chromosomal abnormalities present;

whether acute myeloid leukemia has spread to the brain and spinal cord;

the total number of white blood cells in the blood;

infection at the time of acute myeloid leukemia 

Your leukemia specialist may discuss your prognosis with you after taking one or more of these factors into account.

Prognosis

’ once there are no detectable leukemia cells in the blood and bone marrow and when blood cells are returning to normal levels. Around 2 in 3 patients with acute myeloid leukemia achieve complete remission after their initial 

, which is a sign that that the therapy has been effective in killing the abnormal cells.

However, low levels of cancer cells can go undetected while patients are in remission, making it important to continue with treatment as advised by your leukemia specialist. While in remission, it is also essential that patients remain under close observation and attend regular follow-ups, so that if acute myeloid leukemia returns, it is detected early. Read more about acute myeloid leukemia relapse 

American Cancer Society. Treatment Response Rates for Acute Myeloid Leukemia (AML). 

https://www.cancer.org/cancer/acute-myeloid-leukemia/treating/response-rates

Remission

 occurs when acute myeloid leukemia returns after a patient has reached complete 

. Relapse can occur at any time after initial treatment, from several months to years, and can happen for a number of reasons, including the following:

Your initial treatment may not kill all leukemia cells.

Low levels of leukemia cells can go undetected and multiply over time.

Leukemia cells can spread to different parts of the body, which may not have been detected.

Disease relapse can be spotted during regular check-ups, which are important for early detection. If your acute myeloid leukemia comes back, your leukemia specialist can outline the possible next steps for you in terms of treatment, coping strategies, and quality of life. Read more about the treatment options available for patients who experience relapse 

Acute myeloid leukemia can also be treatment-

, meaning that it does not respond fully to anti-leukemia therapy, and complete 

 is not achieved. Refractory acute myeloid leukemia is diagnosed when abnormal leukemia cells are still observed in the blood or bone marrow after two cycles of chemotherapy, which is detected using a blood test or bone marrow biopsy. You can find out more about refractory acute myeloid leukemia in the Know AML animation below.

Leukaemia Care. Relapse in acute myeloid leukaemia (AML) 

https://media.leukaemiacare.org.uk/wp-content/uploads/Relapse-in-Acute-Myeloid-Leukaemia-AML-Web-Version.pdf

. Published Jan 2019. Accessed Mar 7, 2024.

Relapse

The following information was prepared in collaboration with the 

Recommendations for patients with acute myeloid leukemia

As a patient with acute myeloid leukemia, you may be particularly susceptible to the effects of COVID-19; therefore, measures have been put in place to minimize the risk of you contracting the virus. Patients with acute myeloid leukemia who are not showing 

 should discuss alternatives to clinic visits with their healthcare provider. Many questions can be answered by phone or via a telemedicine visit.

Patients who are on active treatments or receiving transfusions should continue to attend any scheduled appointments unless they are contacted by a member of their healthcare team and advised otherwise. It is a good idea for patients to contact their leukemia specialist prior to each scheduled appointment to see if the appointment is essential, and to possibly conduct the visit by phone or telemedicine. Sometimes it may also be possible to have routine lab tests drawn locally or at home to avoid travel.

It is essential that patients with ANY symptoms of cough, fever, diarrhea, loss of taste/smell, or chills, contact their healthcare provider (most cancer centers have hotlines, the numbers can be found on their websites) for instructions on how to proceed BEFORE coming into the hematology clinics. This ensures that you do not potentially expose other immunocompromised patients to the virus. 

If possible, wear a mask that covers both your nose and mouth when attending hospitals or clinics.

The following general recommendations were prepared by the 

Aplastic Anemia and MDS International Foundation

Wash your hands often for at least 20 seconds with soap and water or use a hand sanitizer that contains at least 60% alcohol.

Refrain from touching your eyes, nose, or mouth.

Cover your mouth and nose with a tissue when coughing or sneezing, discarding the tissue and cleaning your hands afterwards; if a tissue is not available, cough or sneeze into your elbow.

Clean and disinfect frequently touched objects and surfaces (i.e., doorknobs, light switches, handles, toilets, faucets, laptops, keyboards, cell phones, tables/counters).

Avoid close contact with people who are unwell and discourage people from visiting your home if they have any symptoms of illness.

Avoid contact with high-touch surfaces in public places (i.e., elevator buttons, door handles, handrails, touchscreens). Flat surfaces are more likely to have viruses or bacteria.

Contact your leukemia specialist with any questions or specific concerns.

The coronaviruses are a large family of viruses, which may cause illness in animals or humans. COVID-19 is the disease caused by the most recently discovered coronavirus, which originated the current pandemic. Other coronaviruses are those causing the Middle East respiratory syndrome (MERS) and severe acute respiratory syndrome (SARS). Symptoms of COVID-19 may resemble flu as both can cause fever and cough, body aches, and fatigue. The symptoms of COVID-19 usually appear between two and 14 days after being exposed to the virus and vary between mild to severe. Some people can develop breathing difficulties caused by the virus.

COVID-19 can spread from person to person through small droplets when an infected person coughs or sneezes, which is why it is important to maintain social distancing and to wash your hands often and thoroughly.

It is important that you stay up to date with the latest information and guidelines from your country’s health authorities and other trusted sources, such as the World Health Organization (WHO).

 (guidance for patients with blood cancer – United Kingdom)

Centers for Disease Control and Prevention

Aplastic Anemia & MDS International Foundation

 (guidance for patients with bone marrow failure)

COVID-19

Caring for someone with acute myeloid leukemia 


A caregiver is someone who provides unpaid support and care for a family member or friend who cannot manage without their help. A caregiver can be a parent, husband or wife, brother or sister, partner, or a child. In some instances, a caregiver could be a colleague, a neighbor, or a close friend. Every caring situation is different.

Caregivers play a central role in a patient’s journey. Caring can mean a variety of things and in some cases, this could be providing round-the-clock care. Caregivers can help with a patient’s daily needs and activities, including giving medications, listening to the patient’s concerns, driving them to appointments for 

Caregivers can also provide comfort, encouragement, and reassurance to the person they care for. In some cases, a caregiver can be responsible for managing the health and wellbeing of the person they care for. Caregivers can also help the person they care for achieve the best possible quality of life.

Almost every caregiver makes choices that work best for their own situation. There is no universal approach to caring. You simply try to recognize how you can do your best. The following suggestions can help you to help the person you care for.

It is important to communicate clearly with the person you care for and let them know that you want to be there for them. Acknowledge that they have the right to make decisions about their life (unless they lack mental capacity) and deserve respect for their feelings and independence. Involve the person you care for in decision-making as much as possible, always giving them the opportunity to make choices. In cases where they want to speak about their feelings, try to encourage them and listen. You may also want to share your feelings in the most sensitive way possible.

Help with the things that the person you care for cannot do

It is important to give the person you care for as much independence as possible, as this will contribute to their sense of well-being. Understand that it might be emotionally difficult for the person you care for to depend on you and they may feel that they are being a burden. Try to help them in a way that doesn’t seem like you are interfering, even if they do not ask for help.

As a caregiver, you may be a central part of coordinating the patient’s care. You may be responsible for booking appointments and providing transport to and from the hospital. You may also be allowed to visit the healthcare professional with the person you care for, giving you an opportunity to learn more about acute myeloid leukemia, such as the patient’s type of acute myeloid leukemia, the specific treatment options, and the support available for the patient. It is also an opportunity to tell the healthcare professional about the progress of treatment, any side effects from treatment, and any issues you are aware of as the patient’s caregiver. It is useful to ask questions during healthcare professional visits, as in most cases caregivers are the people who know everything that happens to the person that they care for.

In a lot of cases, the time and energy you spend caring can be overlooked by society and the people around you. As a result, you may go through a series of emotions and feelings. Sometimes, you can drain yourself by trying to handle too many responsibilities on top of daily routines and working commitments, which could lead to exhaustion and affect your social life.

Also, caring for someone can lead to extra costs, including hospital bills, transport, and other daily requirements. Trying to keep a full-time job while caring for someone can be difficult, and can lead to you reducing your hours at work or even having to quit your job. All of these could lead to a financial burden.

It is important for you to find time to look after yourself and do things that make you happy. Visit the global network section to find your local support group; they can guide you, provide support when you are overwhelmed with the responsibilities of caring, and provide financial advice.

You can also find our member resources on nutritional support, wellbeing and psychological support, movement/exercise, management of side effects, complementary therapies, and financial and employment assistance via our 

If you’d like to learn more from a caregiver’s experience, follow the stories from caregiver Doris Hill on her experience of caring for her husband with acute myeloid leukemia.