Diagnosis of CML
If you have symptoms of chronic myeloid leukaemia (CML), or if you have a test for another reason and it suggests CML, your general practitioner (GP) will do a physical examination, organise further tests and may refer you to a specialist called a haematologist.
Your doctor will do a physical examination and organise tests of your blood or bone marrow to work out whether you have CML. You may have other tests such as a CT scan or ultrasound to confirm the diagnosis.
If the tests show you have CML, the haematologist will work out how far it has progressed. This is known as staging.
After a CML diagnosis, you are likely to see a range of health professionals, who will all play a part in your treatment.
Many people feel shocked and upset when told they have CML. If you need support, call Cancer Council 13 11 20.
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Most cells in the human body contain 23 pairs of chromosomes. Chromosomes are threadlike structures that contain sets of instructions known as genes.
In nearly all people with CML, chromosome 22 is abnormal and is known as the Philadelphia chromosome (see diagram below).
The Philadelphia chromosome is not inherited and cannot be passed on to your children – it is a genetic change that happens to some people during their lifetime. This chromosome contains the BCR-ABL gene. The diagram below explains the process.
BCR-ABL is considered a cancer gene because it is present only in developing leukaemia cells. It tells the body to produce an abnormal protein called tyrosine kinase, which instructs leukaemia cells to grow and multiply. All people with CML are treated with drugs to block tyrosine kinase (see Targeted therapy).
The Philadelphia chromosome is formed when parts of two chromosomes break off and switch places. A gene from chromosome 22, called BCR, and a gene from chromosome 9, called ABL, create the BCR-ABL gene.
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Dr Kate Melville, Haematology Staff Specialist, Calvary Mater Newcastle, and Conjoint Lecturer, The University of Newcastle; Karl Jobburn, Clinical Nurse Consultant, Haematology, Liverpool Hospital; Patricia Masters, Consumer; Karen Robinson, 13 11 20 Consultant, Cancer Council NSW; Dr Emma Verner, Staff Specialist, Haematology, and Medical Director, Bone Marrow Transplant and Apheresis Unit, Concord Hospital, and Clinical Senior Lecturer, The University of Sydney.
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