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Video: Understanding genetic testing in acute myeloid leukaemia (AML)
Genes and cancer
Certain genes tell our cells how and when to grow. If there are changes that stop these genes working properly, the cells can become abnormal and grow out of control. This leads to a cancer.
People with acute myeloid leukaemia (AML) have genetic changes in their leukaemia cells. These genetic changes stop the cells working as they should, leading to abnormal cell growth and cancer. Genetic changes can affect either individual genes or whole chromosomes. Changes can affect more than one gene.
- A gene is a section of DNA that tells your cells how to make a protein.
- Chromosomes are long, coiled strands of DNA that contain lots of different genes.
Why genetic changes happen
Most of the genetic changes in the cancer cells of people with AML occur by chance. These genetic changes happen during your lifetime. You do not inherit them from your parents, and you cannot pass them on to any children. They are not due to anything you have done.
Less commonly, some people with AML have genetic changes they inherited from their parents. These changes can be passed on to children. AML due to inherited genetic changes is called familial AML.
People with familial AML do not inherit AML directly. They inherit a changed gene that can increase their chance of getting it in the future. It does not mean they will definitely get AML. It means they may develop AML later in life.
Importance of genetic changes
Different genetic changes can make your leukaemia cells behave differently.
Knowing the genetic changes you have can help your haematology team work out the best treatments for you. It can also help them predict how well your AML is likely to respond to treatment.
To find out what genetic changes you have in your leukaemia cells, your haematologist should send your blood or bone marrow samples for testing. The results can be complicated and use a lot of technical terms. Your haematology team will talk to you about what your results mean.
We have more information in our booklet, Genetics in acute myeloid leukaemia (AML).
If you have an inherited genetic change
If your initial test results show that you might have an inherited gene change, your haematologist may recommend more tests to confirm this. This usually involves taking a small sample of your skin.
- If the extra tests show your genetic change is inherited, other close members of your family might also have it. This means they may have a higher chance of getting AML than people without the genetic change. It does not mean they will definitely get AML.
- You should be offered genetic counselling to learn more about what this means for you and your family.
- You may be advised to tell close family members such as parents, adult children, brothers and sisters. They should also be offered genetic counselling to help them decide if they want to be tested for the genetic change.
We have more information in our booklet, Genetics in acute myeloid leukaemia (AML).
We also have a separate Factsheet for family members.
Downloads or relevant links
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Review date
Last reviewed: January 2024
Updated: June 2025
Review date: January 2027
Financial support was provided as an Independent Medical Education Grant from Pfizer Limited. In accordance with our policies, Pfizer had no editorial input into the content.
Sources we used to develop this information
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