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 types
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Multicenter Study
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Research Support, N.I.H., Extramural
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Research Support, N.I.H., Intramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Australia / epidemiology
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Chronic Disease
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Disease Progression
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Dose-Response Relationship, Drug
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Epidemiologic Methods
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Genetic Predisposition to Disease
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Granulocyte Colony-Stimulating Factor / therapeutic use
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Humans
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Leukemia, Myeloid, Acute / epidemiology
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Leukemia, Myeloid, Acute / genetics*
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Leukocyte Elastase / genetics*
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Mutation*
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Myelodysplastic Syndromes / epidemiology
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Myelodysplastic Syndromes / genetics
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Neutropenia / congenital
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Neutropenia / drug therapy
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Neutropenia / epidemiology
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Neutropenia / genetics*
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Precancerous Conditions / congenital
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Precancerous Conditions / drug therapy
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Precancerous Conditions / epidemiology
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Precancerous Conditions / genetics*
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United States / epidemiology
Substances
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Granulocyte Colony-Stimulating Factor
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Leukocyte Elastase