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Study finds genetic link to acute myeloid leukaemia

4 April 2011
Appeared in BioNews 602

Researchers from the Wellcome Trust Sanger Institute have identified three different genetic mutations linked to acute myeloid leukaemia (AML), a cancer that is characterised by a rapid increase in abnormal white blood cells in the bone marrow.

Leading scientist, Dr George Vassiliou and his team activated the human version of the gene NPM1 in mice, the most common gene associated with the cancer, and demonstrated that this led to an increased ability of the cells to renew themselves, a boosted formation of myeloid cells and the over-expression of the gene - all signs of the cancer. However, although the NPM1 mutation could be seen to kick-start the leukaemic process, only three out of ten mice developed leukaemia suggesting it was not solely responsible for the development of the disease.

The researchers then ran a second set of experiments to generate mutations in other genes in the mice and identified two additional types of mutations causing AML - one of which affects cell division and growth, while the other alters a cell's environment.

'In concert, these genetic mutations, which were concentrated on a tiny number of genes, transformed normal to leukaemic cells', said co-author of the study Professor Allan Bradley, a former Director of the Wellcome Trust Sanger Institute and who was involved in the study.

Dr David Grant, scientific director at the charity Leukaemia and Lymphoma Research, summarised the significance of the study, saying 'it offers an invaluable insight into the role of the most common form of mutation found in acute myeloid leukaemia'. He added: 'It explains how it develops and the other genetic factors that drive the leukaemia's growth'.

Around two thousand adults in the UK are diagnosed with AML each year and it is the second most common leukaemia in children. It is more aggressive and progresses more quickly than other forms of leukaemia but with treatment over half of all patients under the age of 60 are cured. Dr Grant said the study 'offers a potential model for the development of new drugs for this terrible disease in the future'.

The study was published in Nature Genetics.

Acute myeloid leukaemia genes' role discovered
BBC News Health |  27 March 2011
Mutant nucleophosmin and cooperating pathways drive leukemia initiation and progression in mice
Nature Genetics |  27 March 2011
Researchers Find Npm1 Gene Mutations Alone Are Unlikely to Cause AML
Genetic Engineering and Biotechnology News |  28 March 2011
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