Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia

UMMS Affiliation

Department of Pediatrics



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Medical Subject Headings

Australia; Chronic Disease; Disease Progression; Dose-Response Relationship, Drug; Epidemiologic Methods; Genetic Predisposition to Disease; Granulocyte Colony-Stimulating Factor; Humans; Leukemia, Myeloid, Acute; Leukocyte Elastase; *Mutation; Myelodysplastic Syndromes; Neutropenia; Precancerous Conditions; United States


Hematology | Oncology | Pediatrics


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.

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Citation: Br J Haematol. 2008 Jan;140(2):210-3. Epub 2007 Nov 20. doi 10.1111/j.1365-2141.2007.06897.x. Link to article on publisher's website

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