Chronic myeloid leukaemia (CML) is the paradigm example in oncology of where our understanding of the molecular biology of the disease has informed recent advances in diagnosis and treatment. CML is consistently associated with a reciprocal translocation event that gives rise to the Philadelphia chromosome.
The resulting BCR-ABL fusion gene encodes a constitutively activated tyrosine kinase that is thought to drive the leukaemogenic process. In recent years we have exploited this molecular hallmark of CML in the development of new and exciting diagnostic techniques and novel small molecule tyrosine kinase inhibitors, which switch off the oncogenic activity of the BCR-ABL tyrosine kinase. This article seeks to review recent advances in the diagnosis of CML as well as offer an insight into the successes and failures of the tyrosine kinase inhibitor, imatinib mesylate, and the challenges that lie ahead for future molecular targeted drug design.