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Title: Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.
Authors: Rosenberg PS,  Alter BP,  Link DC,  Stein S,  Rodger E,  Bolyard AA,  Aprikyan AA,  Bonilla MA,  Dror Y,  Kannourakis G,  Newburger PE,  Boxer LA,  Dale DC
Journal: Br J Haematol
Date: 2008 Jan
Branches: BB, CGB
PubMed ID: 18028488
PMC ID: PMC3143022
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.