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Leukemia. 2016 Sep;30(9):1816-23. doi: 10.1038/leu.2016.164. Epub 2016 Jun 10.

The biology, pathogenesis and clinical aspects of acute lymphoblastic leukemia in children with Down syndrome.

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Division of Hematology/Oncology/Stem Cell Transplant, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Division of Hematology/Oncology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Edmond and Lily Safra, Sheba Medical Center, Tel Aviv University, Tel Hashomer, Israel.
Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.


Children with Down syndrome (DS) are at a 20-fold increased risk for acute lymphoblastic leukemia (DS-ALL). Although the etiology of this higher risk of developing leukemia remains largely unclear, the recent identification of CRLF2 (cytokine receptor like factor 2) and JAK2 mutations and study of the effect of trisomy of Hmgn1 and Dyrk1a (dual-specificity tyrosine phosphorylation-regulated kinase 1A) on B-cell development have shed significant new light on the disease process. Here we focus on the clinical features, biology and genetics of ALL in children with DS. We review the unique characteristics of DS-ALL on both the clinical and molecular levels and discuss the differences in treatments and outcomes in ALL in children with DS compared with those without DS. The identification of new biological insights is expected to pave the way for novel targeted therapies.

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