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.
Original language | English (US) |
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Pages (from-to) | 210-213 |
Number of pages | 4 |
Journal | British Journal of Haematology |
Volume | 140 |
Issue number | 2 |
DOIs | |
State | Published - Jan 2008 |
Externally published | Yes |
Keywords
- Acute myeloid leukaemia
- Granulocyte colony-stimulating factor
- Myelodysplastic syndromes
- Neutrophil elastase ELA2
- Severe congenital neutropenia
ASJC Scopus subject areas
- Hematology