Deep phenotyping and pan-omics of acute lymphoblastic leukemia in Down syndrome

Children with Down syndrome (DS), which occurs due to trisomy 21, have a 20-fold increased risk of acute lymphoblastic leukemia (ALL), but the phenotypic and molecular features associated with risk of ALL in DS are not well understood. DS children with ALL also exhibit distinctive immunophenotypic and cytogenetic characteristics compared to ALL in children without DS, but the basis for the unique spectrum of somatic abnormalities observed in DS-ALL is also unknown. This study will build upon our previous work and leverage existing Children’s Oncology Group (COG) and other resources to: 1) conduct deep phenotyping on children with DS-ALL to better characterize ALL susceptibility and outcomes; and 2) generate pan-omics data to identify molecular etiologies and biomarkers of outcome for DS-ALL.