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- Title
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.
- Authors
Rosenberg, Philip S; Alter, Blanche P; Link, Daniel C; Stein, Steven; Rodger, Elin; Bolyard, Audrey A; Aprikyan, Andrew A; Bonilla, Mary A; Dror, Yigal; Kannourakis, George; Newburger, Peter E; Boxer, Laurence A; Dale, David C
- Abstract
Severe congenital neutropenia (SCN) is a heterogeneous bone marrow failure syndrome predisposing to myelodysplastic syndrome and acute myeloid leukaemia (MDS/AML). We studied 82 North American and Australian SCN patients enrolled in the Severe Chronic Neutropenia International Registry who were on long-term treatment with granulocyte colony-stimulating factor and for whom the neutrophil elastase (ELA2) gene was sequenced. There was no significant difference in the risk of MDS/AML in patients with mutant versus wild-type ELA2: the respective cumulative incidences at 15 years were 36% and 25% (P = 0.96). Patients with either mutant or wild-type ELA2 should be followed closely for leukaemic transformation.
- Publication
British journal of haematology, 2008, Vol 140, Issue 2, p210
- ISSN
1365-2141
- Publication type
Journal Article
- DOI
10.1111/j.1365-2141.2007.06897.x