Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia
Open Access
- 20 November 2007
- journal article
- research article
- Published by Wiley in British Journal of Haematology
- Vol. 140 (2), 210-213
- https://doi.org/10.1111/j.1365-2141.2007.06897.x
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.Keywords
This publication has 13 references indexed in Scilit:
- A molecular classification of congenital neutropenia syndromesPediatric Blood & Cancer, 2007
- Granulocyte Colony-Stimulating Factor: Key (F)actor or Innocent Bystander in the Development of Secondary Myeloid Malignancy?JNCI Journal of the National Cancer Institute, 2007
- HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)Nature Genetics, 2006
- Neutrophil elastase in cyclic and severe congenital neutropeniaBlood, 2006
- The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapyBlood, 2006
- Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia RegisterBlood, 2004
- Congenital neutropeniaBlood Reviews, 2003
- Long‐term follow‐up of granulocyte colony‐stimulating factor receptor mutations in patients with severe congenital neutropenia: implications for leukaemogenesis and therapyBritish Journal of Haematology, 2003
- Severe chronic neutropenia: Treatment and follow‐up of patients in the Severe Chronic Neutropenia International RegistryAmerican Journal of Hematology, 2003
- Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.2000