Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation.
J Pediatr Hematol Oncol
; 36(2): e136-9, 2014 Mar.
Article
em En
| MEDLINE
| ID: mdl-24072241
ABSTRACT
Noonan syndrome (NS) is a congenital genetic disorder characterized by certain facial features, short stature, and congenital heart disease. The disorder is caused by genetic alterations in the RAS/MAPK signal pathway. NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported. Here, we describe a NS patient with B-cell precursor ALL (BCP-ALL) harboring a hyperdiploid karyotype and a PTPN11 germline mutation (c.922A>G; p.N308D). We also discuss the relationship between the hyperdiploid karyotype and genetic alterations in the RAS/MAPK pathway in BCP-ALL.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mutação em Linhagem Germinativa
/
Leucemia-Linfoma Linfoblástico de Células Precursoras
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Proteína Tirosina Fosfatase não Receptora Tipo 11
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Síndrome de Noonan
Limite:
Child
/
Female
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Humans
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article