Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia

  • Gaikwad A
  • Rye C
  • Devidas M
 et al. 
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Abstract

Recurrent, prognostically significant chromosomal abnormalities occur in approximately 75% of paediatric acute lymphoblastic leukaemia (ALL), but only infrequently in children with Down syndrome (DS) and ALL. Recently, novel somatic activating mutations in the gene Janus kinase 2 (JAK2) were reported in 18% of DS ALL. Here we report identification and clinical correlates of JAK2 mutations in an independent cohort. JAK2 activating mutations occurred in 10/53 DS ALL cases (18.9%). Mutations were overrepresented in males (P < 0.03), occurred once in association with high hyperdiploidy and were not significantly correlated with age, initial white blood count, or event-free survival. Our results confirm the significance of JAK-STAT pathway activation in DS ALL.

Author-supplied keywords

  • *Point Mutation
  • Age Factors
  • Child
  • Child, Preschool
  • Diploidy
  • Disease-Free Survival
  • Down Syndrome/*complications/genetics/mortality
  • Enzyme Activation/genetics
  • Humans
  • Janus Kinase 2/*genetics/metabolism
  • Kaplan-Meiers Estimate
  • Leukemia-Lymphoma/enzymology/*genetics/mortality
  • Male
  • Precursor Cell Lymphoblastic
  • Sequence Analysis, DNA
  • Sex Factors

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Authors

  • A Gaikwad

  • C L Rye

  • M Devidas

  • N A Heerema

  • A J Carroll

  • S Izraeli

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