title: Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries.
abstract: BACKGROUND
  Children with Down syndrome (DS) have an increased risk for acute lymphoblastic leukemia (ALL). Although previous studies have shown that DS-ALL differs clinically and genetically from non-DS-ALL, much remains to be elucidated as regards genetic and prognostic factors in DS-ALL.
  
  
  METHODS
  To address clinical and genetic differences between DS-ALL and non-DS-ALL and to identify prognostic factors in DS-ALL, we ascertained and reviewed all 128 pediatric DS-ALL diagnosed in the Nordic countries between 1981 and 2010. Their clinical and genetic features were compared with those of the 4,647 B-cell precursor (BCP) ALL cases diagnosed during the same time period.
  
  
  RESULTS
  All 128 DS-ALL were BCP ALL, comprising 2.7% of all such cases. The 5-year event-free survival (EFS) and overall survival (OS) were significantly (P = 0.026 and P = 0.003, respectively) worse for DS-ALL patients with white blood cell counts ≥50 × 109/l. The age distributions varied between the DS and non-DS cases, with age peaks at 2 and 3 years, respectively; none of the DS patients had infant ALL (P = 0.029). The platelet counts were lower in the DS-ALL group (P = 0.005). Abnormal karyotypes were more common in non-DS-ALL (P < 0.0001), and there was a significant difference in the modal number distribution, with only 2% high hyperdiploid DS-ALL cases (P < 0.0001). The 5-year EFS and 5-year OS were significantly worse for DS-ALL (0.574 and 0.691, respectively) compared with non-DS-ALL (0.783 and 0.894, respectively) in the NOPHO ALL-1992/2000 protocols (P < 0.001).
  
  
  CONCLUSIONS
  The present study adds further support for genetic and clinical differences between DS-ALL and non-DS-ALL.
authors.affiliation: Department of Clinical Genetics, University and Regional Laboratories Region Skåne, SE-221 85 Lund, Sweden. Catarina.Lundin@med.lu.se.
authors.forename: Catarina
authors.initials: C
authors.lastname: Lundin
authors.forename: Erik
authors.initials: E
authors.lastname: Forestier
authors.forename: Mette
authors.initials: M
authors.lastname: Klarskov Andersen
authors.forename: Kirsi
authors.initials: K
authors.lastname: Autio
authors.forename: Gisela
authors.initials: G
authors.lastname: Barbany
authors.forename: Lucia
authors.initials: L
authors.lastname: Cavelier
authors.forename: Irina
authors.initials: I
authors.lastname: Golovleva
authors.forename: Sverre
authors.initials: S
authors.lastname: Heim
authors.forename: Kristiina
authors.initials: K
authors.lastname: Heinonen
authors.forename: Randi
authors.initials: R
authors.lastname: Hovland
authors.forename: Johann H
authors.initials: JH
authors.lastname: Johannsson
authors.forename: Eigil
authors.initials: E
authors.lastname: Kjeldsen
authors.forename: Ann
authors.initials: A
authors.lastname: Nordgren
authors.forename: Lars
authors.initials: L
authors.lastname: Palmqvist
authors.forename: Bertil
authors.initials: B
authors.lastname: Johansson
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D003718:Denmark; D018572:Disease-Free Survival; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics* / Q000628:therapy; D005260:Female; D005387:Finland; D006801:Humans; D007055:Iceland; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D059785:Karyotype; D007621:Karyotyping; D007958:Leukocyte Count; D008297:Male; D009664:Norway; D010976:Platelet Count; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications* / Q000235:genetics* / Q000628:therapy; D012042:Registries / Q000706:statistics & numerical data; D013548:Sweden; D016896:Treatment Outcome
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