Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.
Br J Haematol
; 140(2): 210-3, 2008 Jan.
Article
em En
| MEDLINE
| ID: mdl-18028488
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Lesões Pré-Cancerosas
/
Leucemia Mieloide Aguda
/
Elastase de Leucócito
/
Mutação
/
Neutropenia
Tipo de estudo:
Clinical_trials
/
Etiology_studies
/
Risk_factors_studies
Limite:
Humans
País/Região como assunto:
America do norte
/
Oceania
Idioma:
En
Revista:
Br J Haematol
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Estados Unidos