The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia.
Pediatr Blood Cancer
; 59(3): 580-2, 2012 Sep.
Article
em En
| MEDLINE
| ID: mdl-22183880
ABSTRACT
Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative disorder of early childhood characterized by mutations of the RAS-RAF-MAP kinase signaling pathway. We report the case of a child with a diagnosis of JMML carrying two mutations of NRAS gene (c.37G>C and c.38G>A) independently occurring in long-term culture initiating cells. However, only the former was consistently found in more mature hematopoietic cells, suggesting that cancer transformation may lead to the loss of a mutation. This case also indicates that molecular analysis on cell types other than peripheral blood leukocytes may be useful to obtain relevant biological information on JMML pathogenesis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Genes ras
/
Leucemia Mielomonocítica Juvenil
/
Mutação
Limite:
Humans
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Infant
/
Male
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article