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Faculty of Health Sciences
School of Medicine
Department of Haematology
Specific BCR-ABL mutations in chronic myeloid leukaemia (CML) patients
Chronic myelogenous leukaemia (CML) is a plutipotential stem cell disease characterized by anaemia, extreme blood granulocytosis and granulocytic immaturity. Basophilia, often thrombocytosis and splenomegaly are associated with CML. The haemopoietic stem cells contain a reciprocal translocation between chromosome numbers 9 and 22 in the majority of patients. This translocation leads to an overtly foreshortened long arm of one of the chromosome 22 pair, known as the Philadelphia (Ph) chromosome. CML has a very high propensity to transform into acute leukaemia which is usually refractory to treatment. Clinical studies with the Abl tyrosine kinase inhibitor Imatinib (GlivecŪ) in CML demonstrated that many patients with advanced stage disease respond initially but then relapse. The monitoring of minimal residual disease (MRD) is of critical value. This study aims to monitor Ph+ CML patients before imatinib therapy is commenced to establish if specific BCR-ABL mutations may be indicative of relapse.
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