Approximately 90 people develop CML in Sweden each year. A genetic abnormality in the Philadelphia chromosome causes the body to produce a protein that in turn signals cells to produce more and more white blood cells.
“Although the disease is chronic, it can be effectively slowed and controlled by medication. Early diagnosis is vital in order to avoid a more acute, difficultto-treat phase,” explains Rebecca Warfvinge, a researcher at the Department of Laboratory Medicine.
Recent decades have seen the development of new and much more effective drugs known as tyrosine kinase inhibitors (TKIs). TKIs block the myeloid-cell-producing protein, meaning that the prognosis for patients is now good, with a survival rate of around 90%. That said, lifelong treatment is required and patients respond differently to the available drugs.
Rebecca Warfvinge uses systematic RNA sequencing of large numbers of individual cells taken from CML patients to map leukaemic stem cells, in order to discover how differences in these can predict how the patient will respond to treatment. The challenge lies in detecting the specific CML genetic mutation in the mixture of healthy and leukaemic stem cells in the bone marrow.
“Our hope is that if we can succeed in identifying specific stem cell markers, these will not only provide an early prognosis for the patient but also have some long-term relevance to our ability to distinguish those patients who can discontinue treatment without risking a relapse,” concludes Rebecca Warfvinge.