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What mechanisms lead to AML transformation in Down's syndrome AML?

Jun 19, 2020

During the 25th Congress of the European Hematology Association (EHA), the AML Hub spoke to Paresh Vyas, University of Oxford, Oxford, UK. We asked: What mechanisms lead to AML transformation in Down's syndrome AML?

Up to 30% of newborn babies with Down's syndrome exhibit genetic aberrations in the Gas1 gene. However, at 3 months, most children test negative for these mutations, and only a small proportion persist. This population of children will likely acquire further mutational changes, the range of which have now been identified. The identification of mutational patterns in children with Down's syndrome that progress to AML has allowed for directed, personalized treatment and, therefore, fewer toxicities and favorable survival outcomes.

What mechanisms lead to AML transformation in Down's syndrome AML?