Àá½Ã¸¸ ±â´Ù·Á ÁÖ¼¼¿ä. ·ÎµùÁßÀÔ´Ï´Ù.
KMID : 1100720120320020153
Annals of Laboratory Medicine
2012 Volume.32 No. 2 p.153 ~ p.157
Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype
Kim Sol-Iip

Kim Dong-Hwan
Jang Jun-Ho
Jung Chul-Won
Jang Mi-Ae
Ki Chang-Seok
Kim Jong-Won
Kim Sun-Hee
Kim Hee-Jin
Abstract
Mutations in the transcription factor CCAAT/enhancer binding protein ¥á 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.
KEYWORD
CEBPA, Mutation, Acute myeloid leukemia, Normal Karyotype, Korea
FullTexts / Linksout information
 
Listed journal information
SCI(E) MEDLINE ÇмúÁøÈïÀç´Ü(KCI) KoreaMed