32(02) 153-157 
| Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype |
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| Sollip Kim, M.D.1, Dong-Hwan (Dennis) Kim, M.D.2, Jun-Ho Jang, M.D.2, Chul-Won Jung, M.D.2, Mi-Ae Jang, M.D.3,
Chang-Seok Ki, M.D.3, Jong-Won Kim, M.D.3, Sun-Hee Kim, M.D.3, and Hee-Jin Kim, M.D.3 | | Department of Laboratory Medicine1, Ilsan Paik Hospital, Inje University College of Medicine, Goyang; Departments of Medicine2, and Laboratory Medicine &
Genetics3, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea | |
| Mutations in the transcription factor CCAAT/enhancer binding protein α 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. |
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2012 Mar; 32(02) 153-157 |
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| DOI : http://dx.doi.org/10.3343/alm.2012.32.2.153 |
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| Keyword : CEBPA, Mutation, Acute myeloid leukemia, Normal Karyotype, Korea |
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