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Down syndrome childhood acute lymphoblastic leukemia has a unique spectrum of sentinel cytogenetic lesions that influences treatment outcome: a report from the Children's Oncology Group. Blood 2010 Aug 19;116(7):1045-50 PMID: 20442364 PMCID: PMC2938126

Pubmed ID





Children with Down syndrome (DS) have an increased risk of acute lymphoblastic leukemia (ALL) and an inferior outcome. We reviewed data from 2811 children with ALL enrolled in Children's Oncology Group P9900, which included prospective testing for the major cytogenetic lesions in childhood ALL: ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, and MLL translocations and trisomies of chromosomes 4 and 10. Eighty (3%) B-precursor ALL patients had DS. Age, sex, white blood cell count, and risk group were similar between DS-ALL and non-DS-ALL but significantly more patients with DS-ALL were white (91.2% vs 76.4%, P = .001). Children with DS-ALL had lower rates of the favorable cytogenetic lesions ETV6-RUNX1 (2.5% vs 24%, P < .001) and trisomies 4 and 10 (7.7% vs 24%, P < .001). Five-year event-free (EFS) and overall survival (OS) were inferior in children with DS-ALL: 69.9% +/- 8.6% versus 78.1% +/- 1.2% (P = .078), and 85.8% +/- 6.5% versus 90.0% +/- 0.9% (P = .033). However, when children with MLL translocations, BCR-ABL1, ETV6-RUNX1, and trisomies 4 and 10 were excluded, the EFS and OS were similar for children with and without DS (EFS 68.0 %+/- 9.3% vs 70.5% +/- 1.9%, P = .817; and OS 86.7% +/- 6.7% vs 85.4% +/- 1.5%; P = .852), both overall and adjusted for race. DS-ALL displays a unique spectrum of biologic subtypes with different frequencies of sentinel cytogenetic lesions having a large influence on outcome.

Author List

Maloney KW, Carroll WL, Carroll AJ, Devidas M, Borowitz MJ, Martin PL, Pullen J, Whitlock JA, Willman CL, Winick NJ, Camitta BM, Hunger SP


Bruce M. Camitta MD Clinical Professor in the Medicine department at Medical College of Wisconsin


2-s2.0-77954491626   53 Citations

MESH terms used to index this publication - Major topics in bold

Chromosome Aberrations
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 4
Core Binding Factor Alpha 2 Subunit
Down Syndrome
Fusion Proteins, bcr-abl
Histone-Lysine N-Methyltransferase
Myeloid-Lymphoid Leukemia Protein
Neoplasm, Residual
Oncogene Proteins, Fusion
Polymerase Chain Reaction
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Prospective Studies
Survival Rate
Treatment Outcome
jenkins-FCD Prod-353 9ccd8489072cb19f5b9f808bb23ed672c582f41e