Acute Myeloid Leukemia (AML): Testing for Mutations

This article is for people who have been diagnosed with AML, or their care partner, and others who want to learn more about AML. The goals are to help you understand how changes in certain genes (known as mutations or alterations in the DNA) in the AML cells can be tested, and how the results can be used to help decide which treatment is right for you.

You'll explore:

• What gene mutations in AML cells are

• Why it's important to get tested for gene mutations if you have AML

• When and how testing for gene mutations in AML cells is done

• What it means if your AML cells have certain gene mutations

• Treatment options for AML with certain gene mutations

• Questions to ask your provider

Gene mutations are permanent abnormal changes in the DNA of a gene in one of the body's cells.

Gene mutations can be inherited or acquired (happens after birth), and are the cause of most cancers.

Usually, many mutations are needed before a normal cell becomes a cancer cell.

The number of gene mutations builds up over time, which is why the risk of getting cancer increases with age.

Not everyone with AML has the same gene mutations in their AML cells.

Testing for gene mutations is done when you're first diagnosed with AML, or if your AML comes back testing will be done again to decide on your next treatment.

A biopsy of the bone marrow is necessary to find out if there are gene mutations in your AML cells, and which ones.

The results of AML mutation testing may help you and your provider decide on the treatment that is right for you.

Because gene mutations in AML can change over time, you may have to be tested more than once; for example, if your AML comes back and you need a different treatment.

There are approved medicines called targeted therapies, which attack AML cells that have some gene mutations: FLT3, IDH1, and IDH2.

People with AML who have the FLT3 mutation have a worse prognosis (chance of being cured); people with the IDH1 or IDH2 mutation have a better prognosis.

These medicines are approved for AML and the FLT3, IDH1, or IDH2 mutations:

Other targeted-therapy medicines are being studied in clinical trials for AML with gene mutations, such as gilteritinib and quizartinib, for use in patients with AML and the FLT3 mutation, whose treatment does not work or whose AML comes back after treatment.

Other medicines are also being studied for gene mutations in AML.

Ask your provider if participating in a clinical trial might be right for you.

You can take an active part in your care by asking your provider:

• Does my AML have the FLT3, IDH1, or IDH2 mutation?

• Is targeted therapy right for me?

• What type of treatment do you recommend for me?

• What are the possible benefits of this treatment?

• What are the side effects of this treatment?

• How will this treatment affect my daily life?

• When will I get tested for gene mutations?

• Are there other treatments in clinical trials that might be right for me?

• How can I get help with the costs of my care?

Congratulations!

You have successfully completed the program: Acute Myeloid Leukemia: Testing for Mutations