Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group.
Oncotarget
; 7(20): 28914-9, 2016 May 17.
Article
em En
| MEDLINE
| ID: mdl-26980750
ABSTRACT
Juvenile myelomonocytic leukemia (JMML) is a rare aggressive disease of early childhood. Driver mutations in the Ras signaling pathways are a key feature of JMML patients. Mutations in SETBP1 and JAK3 were recently identified in a subset of JMML patients characterized by poor prognosis and progression of disease. In this study, we report the results of a screening for mutations in SETBP1 and JAK3 of a cohort of seventy Italian patients with JMML, identifying 11.4% of them harboring secondary mutations in these two genes and discovering two new mutations in the SKI domain of SETBP1.JMML xenotransplantation and colony assay provide an initial understanding of the secondary nature of these events occurring in early precursor cells and suggest a different propagating capacity of clones harboring particular mutations.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas Nucleares
/
Proteínas de Transporte
/
Janus Quinase 3
/
Leucemia Mielomonocítica Juvenil
Limite:
Animals
/
Child, preschool
/
Female
/
Humans
/
Male
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article