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An accurate diagnosis of the type of AML is important. The exact diagnosis helps the doctor to estimate how the disease will progress and determine your appropriate treatment.
Diagnosing acute myeloid leukemia (AML) and your AML subtype usually involves a series of tests. Some of these tests may be repeated during and after therapy to measure the effects of treatment.
The information on this page covers how AML is diagnosed in adults. Visit Childhood AML to learn about signs and symptoms, diagnosis, and treatment information for children with AML.
Tests your doctor may use to diagnose AML
Blood and bone marrow tests are used to diagnose AML and the AML subtype. A change in the number and appearance of blood cells helps to make the diagnosis.
Blood and bone marrow tests
Blood tests measure the number of red and white blood cells and platelets in the blood; bone marrow tests measure the fluid and tissue in your marrow. Open each section below to learn more.
This test counts the number of red cells, white cells, and platelets in the blood. The CBC should include a differential, which measures the numbers of the different types of white blood cells in the sample. People with AML often have a high number of white blood cells, but most of these are leukemia (blast) cells that do not protect against infection. They may also have a low number of red blood cells and platelets.
Samples of marrow cells are obtained by bone marrow aspiration and biopsy. Bone marrow testing involves two steps usually performed at the same time in a doctor's office or a hospital:
- A bone marrow aspiration to remove a liquid marrow sample
- A bone marrow biopsy to remove a small amount of bone filled with marrow
Bone marrow samples are usually taken from the hip bone. Both samples are examined under a microscope to look for chromosomal and other cell changes.
Learn more about bone marrow tests.
View the interactive 3D model to help you visualize and better understand the procedure. Click the "Interact in 3D" button to begin.
At the laboratory, the cells in the blood and bone marrow samples will be examined under a microscope. The type of cells and their size and shape are important findings. Another important finding is the percentage of immature blast cells in the bone marrow. Additional tests are done on the samples to determine the AML subtype.
This test can diagnose specific types of leukemia and lymphoma by detecting certain proteins on a cell's surface. The sample of cells comes from a blood or bone marrow test. The test can also be used to see if there are any cancer cells remaining in the body after treatment, called "minimal/measurable residual disease (MRD)."
Learn more about blood, bone marrow, and the lymphatic system.
Genetic tests
The following tests are used to identify, examine, and measure chromosomes and genes. Open each section below to learn more.
This test uses a microscope to examine the chromosomes inside the cells. Chromosomes are the part of a cell that contains genetic information. Normal human cells contain 23 pairs of chromosomes, for a total of 46 chromosomes. The chromosomes are of a certain size, shape, and structure. In some cases of AML, the chromosomes of the leukemia cells have abnormal changes.
Cytogenetic testing is done with either a bone marrow or blood sample. The leukemia cells are allowed to grow in a laboratory and then stained. The sample is then examined to see the arrangement of the chromosomes, called a “karyotype.” The karyotype shows if there are any abnormal changes in the leukemia cells. In some cases, this provides important information to determine treatment options and prognosis.
This test uses blood or bone marrow samples to look for mutations in the genes of AML cells. Certain mutations are markers that can help doctors identify a patient's AML subtype and predict how the disease will progress. DNA sequencing should be done when the cancer is first diagnosed. It should also be done after relapse because the cancer may aquire additional genetic abnormalities.
This is a very sensitive test that finds and measures genetic mutations and chromosome changes that are too small to be seen with other tests, or even with a powerful microscope. PCR can find a single leukemia cell in approximately 100,000 normal cells. This test is given during treatment or after treatment, and the results allow doctors to determine the amount of minimal/measurable residual disease (MRD), the small number of cancer cells left in the body after treatment.
Pre-treatment tests
Before you start treatment, you doctor will perform tests to learn more about your overall health and your disease, including the following:
- Blood chemistry profile
- Human leukocyte antigen (HLA) typing
- An HLA test is done before allogeneic stem cell transplantation to find out if there is a tissue match between a potential donor and the patient receiving the transplant
- Heart tests
- Coagulation tests
Learn more about lab and imaging tests.
Diagnosing AML
After your doctor takes samples of your blood and bone marrow, a hematopathologist confirms a diagnosis. A hematopathologist is a specialist who studies blood cell diseases by looking at samples of blood and marrow cells and other tissues.
For a person to be diagnosed with AML, generally 20 percent or more of the cells in the bone marrow or blood must be myeloblasts (leukemia cells).
Newly diagnosed checklist
This infographic from the College of American Pathologists (CAP) and the American Society of Hematology (ASH) provides practical guidance for patients and caregivers coping with a new diagnosis of acute leukemia. It will help ensure that you receive the best treatment for your unique situation.
Download the Acute Leukemia Diagnostic Journey
Chromosome and gene abnormalities
Chromosomal changes and genetic mutations are an important prognostic factor for predicting remission rates, relapse risks, and survival outcomes. However, not all patients have a chromosomal abnormality, and patients may have different gene mutations from other AML patients. Your doctor will perform a molecular analysis on your cells to identify specific genetic changes. Learn more from our fact sheet, Biomarker Testing for Cancer Treatment.
Diagnosing AML subtypes
Doctors classify AML into subtypes by using various tests. It's important to know your AML subtype because it plays a large part in determining the type of treatment you'll receive. If you are not sure of your AML subtype, ask your doctor what it is and to explain how your AML subtype affects your treament.
World Health Organization (WHO) Classification System
The World Health Organization (WHO) classification system is the main system used to classify AML into subtypes. AML subtypes are based on the genetic abnormalities (gene or chromosome changes) in the myeloblasts (leukemia cells) and the percentage of myeloblasts present in bone marrow and blood. The WHO classification system of AML subtypes is available in Acute Myeloid Leukemia in Adults: In Detail.
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