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Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia
Author(s) -
Gaikwad Amos,
Rye Cassia L.,
Devidas Meenakshi,
Heerema Nyla A.,
Carroll Andrew J.,
Izraeli Shai,
Plon Sharon E.,
Basso Giuseppe,
Pession Andrea,
Rabin Karen R.
Publication year - 2009
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2008.07552.x
Subject(s) - medicine , janus kinase 2 , down syndrome , clinical significance , oncology , somatic cell , germline mutation , mutation , cd19 , immunology , peripheral blood , gene , genetics , biology , receptor , psychiatry
Summary 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.