Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia
Year: 2008
Type: article
Study design: Observational Study
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.
Source: British Journal of Haematology
Institutions: Baylor College of Medicine, University of Colorado Boulder, University of Florida, Nationwide Children's Hospital, The Ohio State University, University of Alabama at Birmingham, Tel Aviv University, Sheba Medical Center, Edmond and Lily Safra Children's Hospital, University of Padua, Azienda Ospedale - Università Padova, University of Bologna
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2061802055