How Acute Myeloid Leukemia Is Diagnosed

Diagnosing acute myeloid leukemia (AML) often requires a number of diagnostic tests, including blood and bone marrow testing. A healthcare provider may order a bone marrow biopsy, lumbar puncture, or even possibly genetic testing. These tests can help healthcare providers confirm a diagnosis of acute myeloid leukemia or determine if it's something else.

This article discusses the steps involved in diagnosing acute myeloid leukemia.

Self-Checks/At-Home Testing

While you may come across mail-in kits to test your blood for leukemia, you need to consult a healthcare professional to diagnose this type of blood cancer. The symptoms of acute myeloid leukemia are nonspecific and include frequent infections, fever, fatigue, and bruising.

Your healthcare professional can further explore what is causing these symptoms.

Physical Examination

To get started, the doctor will usually take a detailed medical history. This means discussing any symptoms you may have, as well as finding out how long this may have been going on. The doctor will likely discuss any possible risk factors you have for acute myeloid leukemia, as well as any other health problems affecting you.

To help assess your risk during this exam, they may ask you things such as:

• Do you smoke?
• Have you been exposed to certain chemicals such as benzene or formaldehyde?
• Have you ever been treated with chemotherapy or radiation?
• Do you have any blood disorders or genetic syndromes?
• Do you have any close relatives with acute myeloid leukemia?

The doctor will be looking for any signs of bruising, bleeding, or infection, in addition to looking closely at your eyes, mouth, skin, spleen, liver, lymph nodes, and nervous system.

If they want to do further testing to check for things such as anemia, infections, or bleeding, the doctor may refer you to a hematologist, who can better diagnose blood disorders.

Labs and Tests

If it is suspected that you may have acute myeloid leukemia, the doctor will check your blood, having it drawn from a vein in the arm. This can help determine if you have an abnormally low blood count or a high number of abnormal white blood cells.

In addition to performing a complete blood count, the laboratory will examine the blood under a microscope to look for changes in the appearance of different blood cells.

People with acute myeloid leukemia don’t have enough red blood cells or platelets and have immature white blood cells. These immature cells don’t work normally.

Still, such findings are not enough alone to make a diagnosis of acute myeloid leukemia. For that, bone marrow testing is generally needed.

Bone Marrow Testing

If the doctor still suspects acute myeloid leukemia, they will test to confirm this by taking a bone marrow biopsy. With this, a small amount of your bone marrow is taken, usually from the hip bone. A bone marrow aspiration may be done at the same time.

With the aspiration, after numbing the area, the doctor inserts a thin, hollow needle into the bone and then removes a small amount of liquid bone marrow using a syringe. After this is done, the biopsy may be removed next with the same needle.

In addition to performing these tests to see if you have acute myeloid leukemia, it may be necessary later to repeat them to determine if you are responding to treatment.

Flow Cytometry and Genetic Testing

Flow cytometry and genetic tests can be done on blood and bone marrow samples to determine the specific type of acute myeloid leukemia that may be affecting you. This can help the doctor better target treatment.

Lumbar Puncture

Although it is not common, if your doctor suspects that a case of acute myeloid leukemia may have spread to the nervous system, they may perform a lumbar puncture. Using a needle, they will extract cerebrospinal fluid from around the spine and examine it for cancerous cells.

Imaging

Since leukemia doesn’t form tumors, imaging tests tend not to help make the leukemia diagnosis. If it has spread beyond the bone marrow and blood, imaging may help to determine the extent of acute myeloid leukemia.

Imaging tests may also help detect persistent infections or other problems that may arise because of leukemia.

• An X-ray may reveal a lung infection.
• A computed tomography (CT) scan can show any enlargement of organs or lymph nodes in your body. While it may be helpful, this is not necessary to make a diagnosis of acute myeloid leukemia. The doctor may also want to use this to look at an organ like the spleen if they suspect that leukemia may have spread there.
• A PET/CT combines a CT scan with a positron emission tomography (PET) scan and can give more details. With this, the doctor injects radioactively labeled glucose into the blood. Rapidly growing cancer cells will quickly take up large quantities of this radioactive sugar. Using a special camera, doctors can then focus on PET areas of higher radioactivity and look at these on the more detailed CT scan.
• An ultrasound, which takes pictures with sound waves, may be used to view enlarged lymph nodes in the abdomen or near the surface of the body. It can also look at organs such as the kidneys, liver, and spleen.

Differential Diagnoses

In determining if you may have acute myeloid leukemia, the doctor will consult a hematopathologist. They will then together make this diagnosis by examining bone marrow and other samples for:

• Any leukemic blast cells
• The number of blast cells: Normally, blast cells account for about 1% to 5% of cells in the marrow. However, in acute myeloid leukemia, these account for 20% of cells. But this number doesn’t have to be reached if there are chromosomal changes in the blast cells.
• Specific markers such as CD13 (cluster designation) or CD33 on the blast cell surface.

With this information, they will determine if your case meets the criteria for diagnosing acute myeloid leukemia. If it does, your doctor will then formulate a treatment plan.

Other conditions that could be producing symptoms found in AML include:

• Anemia: Low numbers of red blood cells
• Aplastic anemia: Failure of the bone marrow to produce any types of blood cells
• Other types of leukemia: Cancers of the blood cells, which may be acute or chronic
• Lymphoma: A cancer of another type of white blood cell
• Myelodysplastic syndromes: Disorders of cells in the bone marrow

Summary

The diagnostic process for acute myeloid leukemia includes a medical history and physical examination. This is followed by a complete blood count and differential. A bone marrow biopsy and genetic testing may be used to confirm the diagnosis. Imaging or lumbar puncture may be done if spread is suspected.

A Word From Verywell

While going through the process and getting a diagnosis of acute myeloid leukemia can seem overwhelming, keep in mind that your doctors know a lot about controlling this disease. They will help you to better understand the specifics of your case and how they will move to effectively combat the disease.