An Anglo-German joint project has identified dozens of genes that contribute to children with Down’s syndrome developing leukaemia, it has been announced.
The researchers say their findings point to existing drugs that might improve treatment of the condition.
The researchers set out to identify the genetic changes that lead to 10% of children with myeloid preleukaemia going on to develop the disease.
About 30% of children with Down’s syndrome have an abnormality in the GATA1 gene that puts them at risk of leukaemia – and 3% develop leukaemia.
The project involved the University of Oxford, UK, with Hannover Medical School and Martin-Luther-University Halle-Wittenberg in Germany. The findings were reported in Cancer Cell last night.
The researchers report on 43 genetic changes that lead to the development of leukaemia. They say that Ruxolitinib could treat some of the genetic mutations.
Researcher Professor Paresh Vyas, from Oxford’s MRC Molecular Haematology Unit, said: "This would mean that we could identify the 10% of children who will develop leukaemia more quickly and easily, and importantly reassure 90% of families whose children will not develop leukaemia.
"The identification of these genetic changes may also mean we can develop and test new treatments specifically targeting the genetic changes we now know are required by the leukaemia – and so develop more targeted treatments with less side effects."
Dr Mariana Delfino-Machin, from the UK Medical Research Council, which backed the work, said: "The recent identification of a group of genes linked to leukaemia in children with Down’s syndrome is an important first step towards developing early diagnostic tests and identifying effective treatments to help these patients."
Mechanisms Of Progression Of Myeloid Preleukemia To Transformed Myeloid Leukemia In Children With Down Syndrome. Cancer Cell 11 July 2019.
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