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During the 25th Congress of the European Hematology Association (EHA), the AML Hub spoke to Leila Varghese, Ludwig Institute for Cancer Research, Brussels, BE. We asked: How can a variant of CSF2RB drive leukemogenesis in Down's syndrome?
Thanks to next-generation sequencing, a number of variants have been associated with AML establishment and progression. However, the question remains: do these variants drive disease and, if so, how?
Patients with Down's syndrome are at much higher risk of developing AML, and a mutation in the cytokine receptor CSF2RB is of particular interest in these patients. Here, Leila Varghese discusses the findings from preclinical studies investigating the involvement of a CSF2RB variant in leukemic cell proliferation.
How can a variant of CSF2RB drive leukemogenesis in Down's syndrome?