- Title
- Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia
- Creator
- Rosenberg, Philip; Alter, Blanche; Link, Daniel; Stein, Steven; Rodger, Elin; Bolyard, Audrey; Aprikyan, Andrew; Bonilla, Mary Ann; Dror, Yigal; Kannourakis, George; Newburger, Peter; Boxer, Laurence; Dale, David
- Date
- 2008
- Type
- Text; Journal article
- Identifier
- http://researchonline.federation.edu.au/vital/access/HandleResolver/1959.17/41007
- Identifier
- vital:745
- Identifier
-
https://doi.org/10.1111/j.1365-2141.2007.06897.x
- Identifier
- ISSN:0007-1048
- 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.; C1
- Publisher
- Wiley-Blackwell Publishing Ltd.
- Relation
- British Journal of Haematology Vol. 140, no. 2 (2008), p. 210-213
- Rights
- Ballarat Cancer Research Centre
- Rights
- Copyright Wiley
- Rights
- This metadata is freely available under a CCO license
- Subject
- 1102 Cardiorespiratory Medicine and Haematology; Acute myeloid leukaemia; Granulocyte colony-stimulating factor; Myelodysplastic syndromes; Neutrophil elastase ELA2; Severe congenital neutropenia
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