Being diagnosed with acute myeloid leukaemia

Your GP will usually arrange for you to have a blood test. If this shows you may have leukaemia, you’ll be seen by a haematologist for further tests and treatment. A haematologist is a doctor who specialises in treating blood problems.

The most important test for diagnosing acute myeloid leukaemia (AML) is a bone marrow sample. A small sample of bone marrow is taken and checked for abnormal white blood cells. The haematologist can tell which type of leukaemia you have by identifying the type of abnormal white blood cell.

Different types of AML are linked with particular genetic changes. There are tests to look for these changes including:

  • immunophenotyping
  • cytogenetics
  • FISH (fluorescence in situ hybridisation)
  • PCR (polymerase chain reaction).

These test results help the doctors decide on the best treatment for you and predict how the leukaemia may respond to it.

You will have other tests to check your general health before treatment. You may have a test called HLA typing if a stem cell transplant is an option for you.

How AML is diagnosed

Usually you will see your family doctor (GP) who will examine you and take a blood test. If the results of the test are abnormal, your GP or a haematologist from the hospital will contact you. A haematologist is a doctor who specialises in treating blood problems. They will arrange for you to be seen quickly at the hospital for further tests and treatment.

At the hospital

Most people with suspected AML are referred to a specialist haematology unit in the hospital. The haematologist will ask about your general health and any previous medical problems you’ve had. They’ll examine you to check if your lymph nodes, spleen or liver are enlarged. You’ll also have more blood samples taken to check the number of different cells in your blood and to look for leukaemia cells.

If the blood test results are abnormal, the haematologist will want to take a sample of your bone marrow. This important test helps the haematologist to find out more about the leukaemia. It gives them the information they need to plan the best treatment for you.

Everything happened very quickly. My doctor said, “You’ve got AML. Go home and pack a few things and go to the hospital”. It was that quick.

Dianne


Bone marrow sample (biopsy)

A doctor or nurse takes a small sample of bone marrow from the back of the hip bone (pelvis), or occasionally the breast bone (sternum). The sample is sent to a laboratory to be checked for abnormal white blood cells. A haematologist can tell which type of leukaemia you have by identifying the type of abnormal white cell.

The procedure can be done on the ward or in the outpatients department. It takes about 20–30 minutes in total, but taking the bone marrow sample only takes a few minutes.

Bone marrow sampling
Bone marrow sampling

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Before the bone marrow sample is taken, you’ll be given a local anaesthetic injection to numb the area. You may also be offered a sedative or gas to reduce any pain or discomfort during the test.

The doctor or nurse passes a needle through the skin into the bone. They then draw a small sample of liquid from inside the bone marrow into a syringe. This is called a bone marrow aspirate. It can feel uncomfortable for a few seconds when the liquid marrow is drawn into the syringe.

You may also have a small core of marrow taken (a trephine biopsy). The doctor or nurse passes a thicker needle through the skin into the bone marrow. When they take the needle out, it contains the sample.

You may feel bruised after having a bone marrow sample taken, and have an ache for a few days. This can be eased with mild painkillers.

Your bone marrow sample is tested to find out which type of AML you have. Different types of AML are associated with particular genetic changes. The following tests can help doctors decide on the best treatment and predict how well the leukaemia may respond to it.

Immunophenotyping

This involves testing the leukaemia cells to look for specific proteins on their surface. It helps identify what type of cell has become abnormal. Knowing this helps the doctors plan the most appropriate treatment for you. This test can also be used to look for very small amounts of leukaemia during and at the end of treatment.

Cytogenetics

This is the study of chromosomes. Almost all the cells in our bodies contain chromosomes, which are made up of genes. The genes control all the cell’s activities. There are often changes in the structure of the chromosomes in the leukaemia cells, but not in the normal cells. A cytogenetic test on the bone marrow sample looks for these changes.

FISH (fluorescence in situ hybridisation)

This test looks for specific changes in the chromosomes that may not be seen with the usual cytogenetic testing.

PCR (polymerase chain reaction)

This is a very sensitive test that can identify chromosome changes that are too small to see under a microscope. The most commonly tested are FLT 3 ITD and NPM1 mutations. PCR testing may also be done after treatment to check how well it has worked.


Tissue typing

You will have this blood test if your specialist thinks a stem cell transplant may be part of your treatment.

Your tissue type is based on a group of proteins on the surface of your cells, called human leukocyte antigen markers (HLA markers). The immune system uses these markers to identify each cell in the body as one of its own.

Once the doctors know what your tissue type is, they can use this to find a possible stem cell donor for you.


Other tests

Your doctor may arrange for you to have other tests to check that your lungs, liver, kidneys and heart are healthy. These can include:

  • a chest x-ray
  • further blood tests
  • an electrocardiogram (ECG)
  • an echocardiogram.

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