Down syndrome-associated leukaemias: current evidence and challenges

Children with Down syndrome (DS) are at increased risk of developing haematological malignancies, in particular acute megakaryoblastic leukaemia and acute lymphoblastic leukaemia. The microenvironment established by abnormal haematopoiesis driven by trisomy 21 is compounded by additional genetic and epigenetic changes that can drive leukaemogenesis in patients with DS.

Citation:
Mason NR, Cahill H, Diamond Y, ……. Kotecha RS, Marshall GM, Mateos MK. Down syndrome-associated leukaemias: current evidence and challenges. Ther Adv Hematol. 2024;15.

Keywords:
Down syndrome; GATA1; acute leukaemia; children; leukaemogenesis; myeloid leukaemia of Down syndrome; transient abnormal myelopoiesis

Abstract:
Children with Down syndrome (DS) are at increased risk of developing haematological malignancies, in particular acute megakaryoblastic leukaemia and acute lymphoblastic leukaemia. The microenvironment established by abnormal haematopoiesis driven by trisomy 21 is compounded by additional genetic and epigenetic changes that can drive leukaemogenesis in patients with DS.