Natural history of AML in children with Down’s syndrome

Professor Irene Roberts, Imperial College London

Children with Down’s syndrome have a 500-fold increased risk of developing acute myeloid leukaemia (AML) before their 5th birthday. The earliest signs of AML in these children can be found in the first few days of life. However, at present these early signs are very difficult to recognise. Professor Irene Roberts' study aims to discover the specific clinical and laboratory features which reliably identify which newborn children with Down’s syndrome are at risk of AML.

Over the last year Professor Roberts' team have collected information about the clinical features and blood counts of more than 300 newborn babies with Down’s syndrome. They have also carried out detailed examination of their blood cells under the microscope and tested for mutations in a key gene (GATA1) which is known to play an important role in the early stages of AML in Down’s syndrome. Now the team are beginning to characterise the cells carrying GATA1 mutations by flow cytometry, an instrument which measures the molecules present on the surface of normal and leukaemic cells.

Professor Roberts and her team believe this information will allow them to track the early stages of AML in Down’s syndrome for the first time. It is hoped that this will lead to improvements in the diagnosis and management of this leukaemia and that the insight we gain into the leukaemic cells themselves may help us to understand the development of other leukaemias.