Diagnosis and Treatment for Acute Myeloid Leukemia (AML)

If you start to feel any symptoms that can be attributed to acute myeloid leukemia, it’s important to go to a doctor immediately. While having symptoms doesn’t necessarily mean you also have the disease, getting a proper diagnosis whenever you experience any type of irregular symptoms is always a smart idea.

If your doctor suspects you may have AML or any other type of leukemia, they will go through the following steps.

Physical Exam and Medical History

Before the doctor can perform any technical medical tests, they will first give you a regular physical exam. During this exam, the doctor will check your body for any potential signs of cancer such as overly pale and easily bruised skin, swollen glands or flat purple/slash red spots.

They will also go over your medical history with you and discuss all of the different symptoms of AML so they can determine the likelihood of acute myeloid leukemia. Of course, the doctor won’t be able to give you a diagnosis after just a physical exam, but it will help them understand how you’re feeling and what you’re experiencing.

Blood Tests

Blood tests are often used for diagnosing multiple types of cancer, but they’re especially beneficial when diagnosing different types of leukemia.

A blood test is meant to determine the exact number of red cells, white cells and platelets inside a patient’s body. All of these cells have a different purpose, and if someone has acute myeloid leukemia, they will have an abnormal number of these cells.

Red blood cells are responsible for distributing oxygen around the body via hemoglobin, white blood cells fight infections, and palates clot the blood.

There are two different blood tests a doctor can order: a complete blood count (CBC) with differential and a peripheral blood smear.

Complete Blood Count (CBC) with Differential

A complete blood count (CBC) with differential is used to measure the total amount of red blood cells, white blood cells and platelets the patient has in their body. These blood cells are measured by a differential, hence the name of the test.

If a doctor is looking to diagnose leukemia, they will need an insight into the patient’s blood cells, and those who have AML don’t have enough platelets and red blood cells but have too many white blood cells.

Peripheral Blood Smear

If a CBC with differential shows any irregularities and the doctor wants a better overview of the state of the patient’s blood cells and platelets, they will order a peripheral blood smear.

This type of blood test provides information on the size, shape and number of all of these cells within the patient’s blood.

To perform a blood smear, a medical professional will spread a sample of the patient’s blood on a glass slide, treat it with a special stain and then examine it under a microscope. This is typically done by a laboratory professional.

Bone Marrow Aspiration and Biopsy

Even though a blood test allows doctors to determine whether a patient has AML or perhaps a different type of leukemia, it doesn’t provide enough information to make a diagnosis. To do that, the patient will have to undergo a bone marrow aspiration and biopsy.

This type of testing is crucial because ALL first starts in the bone marrow, and if the patient does have acute myeloid leukemia, this is the most surefire way to confirm it.

To perform a bone marrow aspiration, the doctor will insert a small hollow needle into the patient’s hipbone or breastbone. Afterward, they will extract part of the bone marrow, a small piece of the bone, as well as some blood.

To perform a bone marrow biopsy, a pathologist will examine the bone marrow, bone and blood that was extracted from the patient under a microscope. While doing this, they will look for any signs or indications that cancerous cells are present.

Lab Tests

After a bone marrow aspiration and biopsy, the doctor will know whether the patient has cancerous cells inside the bone marrow. However, if they want to determine whether it’s AML rather than a different type of leukemia, or perhaps see what type of AML it is exactly, the doctor will order lab tests.

These are the different types of lab tests that could be used when diagnosing AML:

Cytochemistry

When a doctor wants to determine what type of leukemia a patient has, they will order a cytochemistry lab test.

During this test, the patient’s cells are placed on a slide and then exposed to chemical stains, which are a special type of dye. When these stains make contact with the cells, they will cause a reaction and the cells may or may not change color, depending on their structure.

If we take AML for example, there is a specific chemical stain that only AML cells react to and when the dye comes in contact with these cells, it will turn them black. But if the patient suffers from acute lymphoblastic leukemia (ALL) their cells will remain unchanged.

Flow Cytometry and Immunohistochemistry

Flow cytometry and immunohistochemistry are two very similar lab tests that are both used to detect the presence of antigens on the surface of the patient’s cells or within the cells themselves.

As they’re used for the same purposes, they’re typically grouped together, however, they are performed using different techniques. Flow cytometry is a laser-based technique while immunohistochemistry is a microscopy-based technique.

Deciding which two of these lab tests should be used is up to the doctor, as both of them have their advantages and which one would be the better option differs from case to case.

Chromosome Tests

Chromosomes are not only an important part of our DNA, but they can also be an indication that something is wrong. A healthy human has a total of 23 pairs of chromosomes, but if they have AML or a different subtype of leukemia, that’s not always the case.

AML can cause some chromosomal abnormalities and changes, and the only way to check for these abnormalities is to perform chromosome tests.

Cytogenetics

During a cytogenetics test, a medical professional will examine the patient’s cells underneath a microscope and look for any abnormalities and chromosome changes. The cells that get examined first need to be grown in a lab, which is why it takes two to three weeks before the chromosomes can be tested.

Fluorescent in Situ Hybridization (FISH)

Fluorescent in situ hybridization, or FISH for short, is a chromosome test that uses special fluorescent dyes that stick to chromosomes, but only to some parts or genes.

Thanks to FISH, medical professionals can closely examine DNA and detect potential chromosome changes. This test can be performed either by using regular blood or bone marrow samples without having to grow them in the laboratory beforehand.

Lumbar Puncture (Spinal Tap)

Acute myeloid leukemia is a disease that spreads incredibly quickly, and one of the areas of the body that it spreads to frequently is the area around the brain and spinal cord. If AML is detected and the doctor suspects it may have spread, they will perform a spinal tap.

A spinal tap is performed by placing a small and hollow needle between the two spinal bones. The doctor will then insert that needle and collect fluid from the spinal bone area, which will have to be tested.

Imaging Tests

Imaging tests are useful for diagnosing cancers that create tumors, which AML and other types of leukemia aren’t. However, these tests can still be useful in the diagnosing stage of acute myeloid leukemia as they can determine whether the disease has spread and/or created other issues.

Chest X-Ray

In some cases, AML can spread to the lungs and cause an infection or lead to enlarged lymph nodes. Both of these issues can be detected with an X-ray scan.

Computed Tomography (CT)

A CT scan can allow the doctor to check whether the patient has enlarged lymph nodes or if their leukemia has spread to organs and started growing cancerous cells.

Magnetic Resonance Imaging (MRI)

An MRI scan is used when the doctor wants to closely examine the patient’s spinal cord or the brain and is often used in combination with a spinal tap.

Positron Emission Tomography (PET)

If a doctor decides to order a PET scan for a patient who was diagnosed with AML, they will most likely do it in conjunction with a CT scan. This is done to check whether there has been any increased cell activity and in which areas.

Ultrasound

If the doctor suspects the patient has lymph nodes near the surface of their body, they will perform an ultrasound. This imaging test can also show whether organs in the abdomen such as the liver, kidneys or spleen are enlarged.

Diagnostic Results

After all of these tests, the doctor will know for certain if their patient has AML, how severe it is, and what steps need to be taken next.

After a patient receives their AML diagnosis, they will need to start treatment as soon as possible. Seeing as how acute myeloid leukemia is a very fast-spreading disease, it needs to be addressed quickly.

However, before the patient can receive treatment, their doctor needs to decide what the best possible treatment option for them would be. To do that, they need to determine their prognosis and what stage the disease is in.

Factors That Affect Prognosis and Treatment

When trying to determine a patient’s prognosis, the doctor will have to take multiple factors into account. This prognosis is a big deciding factor regarding the treatment the patient will receive, as it will show how favorable or unfavorable the outlook is.

These factors include:

• Whether the patient has any chromosome abnormalities, and if they do, which ones.
• Whether the patient’s leukemia cells have a genetic mutation, and if they do, which one.
• If the leukemia cells contain the P-glycoprotein or the CD34 protein because if they do, this often means that the outlook is worse.
• Those diagnosed with AML at the age of 60 or older often have a worse outlook than younger patients.
• What the patient’s white blood cell count is. The lower the white blood cell count when the patient receives their diagnosis, the better their prognosis.
• If the patient had a blood disorder or infection before they were diagnosed with AML, their prognosis is worse.
• If the leukemia cells have reached the area around the brain and spinal cord, the patient will require more aggressive treatment.

It’s important to note that even if a patient has a worse outlook and prognosis, that doesn’t mean they can’t be cured, it just means that they require more aggressive treatment.

AML Stages

Unlike most other cancers that have numbered staging, AML stages are defined by how many cancerous cells there are in the body at the time of diagnosis and how far the disease has progressed.

The stages of AML include:

• Untreated AML: When acute myeloid leukemia is newly diagnosed, that means it’s just been diagnosed and the patient hasn’t received treatment for it yet.
• Active AML: If a patient’s AML is active, more than 5% of the cells in their bone marrow are immature blood cells, also known as blasts or leukemia cells.
• AML in Remission: After the patient receives treatment for their AML, they can enter remission, which means that their bone marrow and blood cells don’t have any leukemia cells left.
• Recurrent AML: If the patient was already treated for leukemia and went through remission, their disease can still come back. If it does, it’s known as recurrent leukemia.

These stages allow the doctor in charge of the patient’s case to choose the best possible treatment option and follow how they’re responding to treatment.

AML Treatment Phases

Since AML is a serious disease that requires a thorough treatment process, the treatment has to be divided into two different phases.

Induction Therapy

The first phase of the treatment is induction therapy, during which the patient receives multiple rounds of chemotherapy in hopes of destroying as many leukemia cells as possible. The doctor will decide how intense the treatment will be, and this all depends on the patient’s age and overall health.

Consolidation (Post-Remission) Therapy

After the patient achieves remission during induction therapy, they will go through the second AML treatment phase which is consolidation therapy, also known as post-remission therapy.

The goal of this stage is to get rid of any leukemia cells that may still be lingering in the patient’s blood and more marrow. This is done to ensure the patient stays in remission and the AML doesn’t relapse.

The type of consolidation therapy the patient receives will largely depend on how favorable their outlook is.

For example, patients whose AML has a more favorable outlook will probably receive chemotherapy or perhaps targeted therapy.

Those with an unfavorable risk will most likely receive a bone marrow transplant along with intensive chemotherapy.

AML Treatment Options

It’s important to understand that every AML case is unique and that the best treatment option will vary from patient to patient. At Sheba Medical Center, we offer five different treatment options.

Chemotherapy

The most common treatment option used to treat acute myeloid leukemia is chemotherapy. During this type of treatment, special drugs are used to destroy the cancerous cells in the blood and bone marrow. However, chemotherapy also destroys healthy cells.

Radiotherapy

Radiotherapy, also known as radiation therapy, is a type of cancer treatment that destroys cancer cells with the use of high-energy rays.

Radiotherapy isn’t always the right treatment option for AML, but it can be when the leukemia spreads to the outside of the blood and bone marrow. If this happens, AML often spreads to the brain and spinal fluid, and for some men, it can spread to the testicles.

Targeted Therapy

Doctors use targeted therapy to target certain molecules that are found either on or inside cancerous cells. These molecules are the ones that send signals to cancerous cells to grow and divide, and if a doctor targets these molecules in particular, they can destroy them while leaving healthy cells unharmed.

Targeted therapy can be used to treat AML that has some genetic mutations or expresses certain proteins. In some cases, targeted therapy is used along with chemotherapy if the patient’s AML requires a more direct approach and/or isn’t properly responding to chemotherapy.

Bone Marrow Transplant

As AML is a type of cancer that appears in the blood and bone marrow, which is why in some cases, the only way a patient can go through complete remission is if they receive a bone marrow transplant.

After a patient receives a bone marrow transplant, over time the unhealthy blood-forming stem cells will become replaced with healthy ones, and this will help the body fight off leukemia more easily.

CAR T-cell Therapy

CAR T-cell therapy is a revolutionary and breakthrough cancer treatment that uses genetically altered T-cells to locate leukemia cells and effectively kill them.

Currently, not many medical institutions offer this treatment option, but we here at Sheba Medical Center offer in-house CAR T-cell therapy. This treatment option is highly specialized and personalized, which means it fits every patient’s unique needs.

Even after a patient is cured and is in the remission stage, they still require follow-up care. This is what allows the doctor and other healthcare professionals to keep an eye on the patient, track their health, help them deal with the side effects of their treatment, and provide emotional support.

If you go through AML treatment, your doctor will most likely schedule frequent checkups for up to two years after treatment is completed, usually every 1-2 months.