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

Amos Gaikwad, Cassia L. Rye, Meenakshi Devidas, Nyla A. Heerema, Andrew J. Carroll, Shai Izraeli, Sharon E. Plon, Giuseppe Basso, Andrea Pession, Karen R. Rabin

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)930-932
Number of pages3
JournalBritish Journal of Haematology
Volume144
Issue number6
DOIs
StatePublished - Mar 2009

Keywords

  • Acute lymphoblastic leukaemia
  • Down syndrome
  • JAK2
  • Paediatric

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