Study shows that mutation can cause leukaemia

In collaboration with the Press Association

Scientists have found proof for the first time that a particular mutation found in some patients with acute myeloid leukaemia is linked to the disease.

But their study gave surprising insights into how the mutation causes cancer to develop.

The researchers, from the European Molecular Biology Laboratory (EMBL) in Italy, the UK's EMBL-European Bioinformatics Institute, and the Universities of Lund, Sweden, and Harvard, introduced the mutation, which affects a protein called C/EBPa, into mice to try and mimic its effects in patients.

They found that, rather than triggering the growth of malignant blood stem cells, widely assumed to be the cause of leukaemia, the mutation instead programmed normal white blood cells that were ready to stop dividing to do a U-turn and start multiplying out of control.

This means that, rather than maturing and losing the ability to keep on multiplying, the cells can carry on dividing and multiplying, eventually leading to an abundance of faulty cells and a shortage of normal, healthy blood cells.

According to the team, whose findings are published in the journal Cancer Cell, the findings may have implications for the treatment of AML as ten per cent of patients have this particular mutation.

But because they also found that the reprogramming process is shared with similar leukaemias caused by other mutations, it raises the exciting possibility of developing treatments that are more generally effective for leukaemia by targeting these common cellular changes.

Dr Nerlov, group leader at EMBL, commented: "This is the first time that non-stem cell myeloid leukaemia has been generated within a healthy blood system.

"The findings will have profound implications for our understanding of the development and treatment of leukaemias."