GATA1 Mutation in Transient Myeloproliferative Disorder of Down Syndrome
Korean Journal of Hematology
;
: 43-47, 2008.
Artigo
em Coreano
| WPRIM
| ID: wpr-720814
ABSTRACT
Children with Down syndrome (DS) have a higher risk of developing leukemia than do healthy children, and they especially have a higher risk for developing transient myeloproliferative disorder (TMD) or acute megakaryocytic leukemia (AMKL). In recent studies, it has been reported that most of these patients have acquired mutation of the GATA1 gene, which encodes the erythroid/megakaryocytic transcription factor GATA1. GATA1 mutations have not been found in AMKL patients who did not have DS and other hematologic malignancies in DS. Most of the GATA1 mutations in DS-TMD/AMKL are nonsense mutations that are mainly located in exon 2. We observed a nonsense mutation in exon 2 of GATA1 [c.189_190delCA (Tyr63X)] in one case of DS-TMD. The GATA1 mutation has been thought to be an early event in the leukemogenesis of DS-TMD/AMKL and it could be used as a stable molecular marker to assess the treatment response or to monitor for the recurrence of DS-TMD/AMKL.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Compostos Organotiofosforados
/
Recidiva
/
Leucemia
/
Leucemia Megacarioblástica Aguda
/
Éxons
/
Síndrome de Down
/
Códon sem Sentido
/
Neoplasias Hematológicas
/
Fator de Transcrição GATA1
/
Transtornos Mieloproliferativos
Limite:
Criança
/
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Hematology
Ano de publicação:
2008
Tipo de documento:
Artigo
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