Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype
Annals of Laboratory Medicine
;
: 153-157, 2012.
Artículo
en Inglés
| WPRIM
| ID: wpr-100683
ABSTRACT
Mutations in the transcription factor CCAAT/enhancer binding protein alpha gene (CEBPA) are found in 5-14% of the patients with AML and have been associated with a favorable clinical outcome. In this study, we aimed to assess the frequencies and characteristics of mutations in CEBPA. Between 2006 and 2009, CEBPA mutations were assessed using archival DNA samples obtained from 30 consecutive adult patients diagnosed with AML with a normal karyotype at our institution. CEBPA mutations were detected using direct sequencing analyses. These mutations were detected and described with reference to GenBank Accession No. NM_004364.3. In our series, CEBPA mutations were detected in 4 patients (13.3%). These mutations occurred as double mutations in all 4 patients. Among the 8 mutant alleles, 5 were novel (c.179_180dupCG, c.50_53delGCCA, c.178_182delACGTinsTTT, c.243_244insGTCG, and c.923_924insCTC). The frequency of occurrence of CEBPA mutations in Korean patients with AML is comparable to that in previous reports. Long-term follow-up data from a larger series of patients with comprehensive molecular profiling are needed to delineate the prognostic implications.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Leucemia Mieloide Aguda
/
Análisis de Secuencia de ADN
/
Proteína alfa Potenciadora de Unión a CCAAT
/
Pueblo Asiatico
/
Alelos
/
República de Corea
/
Cariotipificación
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Adulto
/
Anciano
/
Aged80
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Annals of Laboratory Medicine
Año:
2012
Tipo del documento:
Artículo
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