Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia
Department of Pediatrics
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.
DOI of Published Version
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
British journal of haematology
Rosenberg, Philip S.; Alter, Blanche P.; Link, Daniel C.; Stein, Steven; Rodger, Elin; Bolyard, Audrey Anna; Aprikyan, Andrew A.G.; Bonilla, Mary A.; Dror, Yigal; Kanourakis, George; Newburger, Peter E.; Boxer, Laurence A.; and Dale, David C., "Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia" (2008). Hematology/Oncology. 112.