Chronic myeloid leukaemia - Diagnosing chronic myeloid leukaemia

Chronic myeloid leukaemia is often first detected when a routine blood test is carried out to diagnose another, unrelated, condition.

A blood test that reveals abnormally high levels of white blood cells could be a sign of chronic leukaemia. If you have a blood test with abnormal results, you will be referred to a haematologist (a specialist in treating blood conditions) for further testing.

Bone marrow biopsy

To confirm a diagnosis of chronic leukaemia, the haematologist will take a small sample of your bone marrow to examine under a microscope. This procedure is known as a bone marrow biopsy. A bone marrow biopsy is usually carried out under a local anaesthetic.

The haematologist will numb an area of skin at the back of your hip bone, before using a needle to remove the bone marrow sample. You may experience some pain once the anaesthetic wears off and some bruising and discomfort for a few days afterwards. The procedure takes around 15 minutes to complete and you should not have to stay in hospital overnight.

The bone marrow sample will be checked to see if there are cancerous cells. If there are, the biopsy will also be able to help determine which type of chronic leukaemia is present.

Further tests

There are a number of additional tests that can be used to help reveal more information about the progress and extent of the leukaemia. These can also provide an insight into how the leukaemia should be treated. These are outlined below.

Cytogenetic testing

Cytogenetic testing involves identifying the genetic make-up of the cancerous cells. There are a number of specific genetic variations that can occur during leukaemia and knowing what these variations are can have an important impact on treatment.

For example, 90% of people with chronic myeloid leukaemia have the Philadelphia chromosome. People who have this chromosome are known to respond well to a medicine called imatinib.

Polymerase chain reaction (PCR)

A polymerase chain reaction (PCR) test can be done on a blood sample. This is an important test to diagnose and monitor the response to treatment.

The blood test is repeated every three months for at least two years after starting treatment, then less often once remission is achieved.

Imaging tests

In some cases, the hospital may want to perform some imaging tests to help rule out other conditions or confirm a diagnosis. This may be either:

• an X-ray – usually to examine your chest
• an ultrasound scan – usually to examine your spleen and liver