@article{b846d7bde10b49ecb85e67dbb8f71c83,
title = "Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia",
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.",
keywords = "Acute lymphoblastic leukaemia, Down syndrome, JAK2, Paediatric",
author = "Amos Gaikwad and Rye, {Cassia L.} and Meenakshi Devidas and Heerema, {Nyla A.} and Carroll, {Andrew J.} and Shai Izraeli and Plon, {Sharon E.} and Giuseppe Basso and Andrea Pession and Rabin, {Karen R.}",
year = "2009",
month = mar,
doi = "10.1111/j.1365-2141.2008.07552.x",
language = "אנגלית",
volume = "144",
pages = "930--932",
journal = "British Journal of Haematology",
issn = "0007-1048",
publisher = "John Wiley and Sons Inc.",
number = "6",
}
