Many types of medical tests can be used to learn more about individual cases of acute myeloid leukemia (AML), which make up about 80 percent of acute leukemia cases diagnosed in adults. AML can occur at any age, but is mostly diagnosed in people older than 60. AML is diagnosed when 20 percent or more immature cells (known as blasts) are present in the bone marrow or blood. AML can also be diagnosed if certain genetic abnormalities are present.

Some tests are used to confirm that a person has AML, while others may be used to find out the subtype or severity of AML.

Tests Used To Diagnose Acute Myeloid Leukemia

Doctors may use several tests to confirm an AML diagnosis after doing a physical exam and taking a medical history. During the physical examination and a conversation about your medical history, your doctor may identify potential warning signs of AML that prompt them to do additional diagnostic tests. Typically, a combination of blood tests, biopsies, genetic tests, and imaging tests are used.

Blood Tests

Blood tests are usually the first tests doctors perform to identify leukemia. Blood tests are used in the diagnosis of AML because the abnormal growth and division of myeloid cells leads to a buildup of immature, malignant cells and fewer mature red blood cells, platelets, and white blood cells in circulation. Certain blood tests can help measure the number of mature and immature cells in the blood.

Blood tests may include a complete blood count (CBC) to identify the types of cells in the blood and to determine the proportion of healthy cells present. Another test is a peripheral blood smear, which health care professionals use to look at blood cells under a microscope. Blood chemistry tests measure the levels of certain chemicals in the blood, and blood coagulation tests measure the ability of the blood to clot. Blood chemistry and coagulation tests cannot diagnose AML, but they can help detect associated problems, such as liver or kidney damage.

Biopsies

Because AML begins in the bone marrow, doctors may decide to take a liquid sample and a solid sample for bone marrow tests.

A liquid sample is taken by aspirating the bone marrow. Bone marrow aspiration is a procedure that uses a needle inserted into the back of the hip bone to extract a small amount of marrow. A bone marrow biopsy is used to extract a small amount of solid bone marrow from the hip. Bone marrow aspirations and biopsies are usually done at the same time.

After extraction, the bone marrow samples will be examined under a microscope for abnormalities in cell size or shape that may indicate cancerous changes.

In addition to samples of bone marrow, doctors may decide to take a sample of the cerebrospinal fluid (CSF), which surrounds and cushions the brain and spinal cord. CSF can sometimes be affected by AML. CSF is removed by a procedure known as a lumbar puncture or spinal tap. During this procedure, a needle is used to collect cerebrospinal fluid from the spinal column. The sample is checked under a microscope to determine whether leukemic cells have spread to the brain or spinal cord.

Genetic Tests

The genetic landscape of AML has been well studied, and several genes that drive the development of AML have been identified. One study that involved over 200 women who did not have AML at the time of enrollment looked at the genetic changes in these women years before they developed AML. They identified several mutations associated with a higher risk for AML.

Cytogenetic analysis or molecular genetic testing may be done to diagnose AML, classify AML into a subgroup, or help identify the best treatment options. Cytogenetic testing is a way to check the chromosomes of leukemia cells for abnormalities. Molecular genetic testing is used to identify genetic mutations in the DNA of cancer cells.

Imaging Tests

Imaging tests may be used to learn more about some cases of AML. Leukemia is considered a liquid cancer, which means it doesn’t usually form solid tumors. Therefore, imaging tests are not usually helpful for diagnosing AML.

However, pictures of the inside of the body can be used to look for other problems related to AML, such as infections. For example, X-ray images of the chest may be helpful in diagnosing lung infection. CT scans can reveal lymph nodes or organs that are enlarged or affected by leukemic cells. PET scans can identify which areas of the body have high numbers of cancerous cells.

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