Chronic Myeloid Leukaemia

Chronic Myeloid Leukaemia

The diagnostic hallmark of chronic myeloid leukaemia (CML) is the presence of the 'Philadelphia' chromosome which results in the fusion of the BCR gene on chromosome 22 with the ABL1 gene on chromosome 9. Diagnostic testing to identify the gene fusion event is carried out by the Northern Genetics Service using classical cytogenetic techniques; NewGene provides monitoring services for patients post-diagnosis.

Patients with CML are treated with the drug Imatinib, or a second-generation tyrosine kinase inhibitor, at diagnosis. The treatment is highly effective, although it is essential that any relapse in the disease is identified as soon as possible to ensure the best clinical outcome for the patient. To enable this, the expression level of the BCR-ABL fusion gene is monitored in patients over time, as a surrogate measure of the number of leukaemic cells present in their blood.

Over time, a small number of patients develop resistance to the standard Imatinib treatment as the BCR-ABL gene acquires further mutations such that the drug is no longer able to recognise the mutant protein. Such patients require alternative treatments.

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