Ann Lab Med.  2012 Mar;32(2):153-157. 10.3343/alm.2012.32.2.153.

Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype

• Kim S
• Kim DH
• Jang JH
• Jung CW
• Jang MA
• Ki CS
• Kim JW
• Kim SH
• Kim HJ

• KMID: 1245256
• DOI: http://doi.org/10.3343/alm.2012.32.2.153

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.

Keyword

CEBPA; Mutation; Acute myeloid leukemia; Normal Karyotype; Korea

MeSH Terms

Adult
Aged
Aged, 80 and over
Alleles
Asian Continental Ancestry Group/*genetics
CCAAT-Enhancer-Binding Protein-alpha/*genetics
Female
Humans
Karyotyping
Leukemia, Myeloid, Acute/*genetics
Male
Middle Aged
*Mutation
Republic of Korea
Sequence Analysis, DNA

Figure

• 

  Fig. 1 CEBPA mutations detected in 4 patients. CEBPA mutations occurred as double mutations in all 4 patients. CEBPA double mutations in these patients were c.179_180dupCG [N] and c.929_930insTCT [C], c.50_53delGCCA [N] and c.912_913insTTG [C], c.178_182delACGTinsTTT [N] and c.923_924insCTC [C], and c.243_244insGTCG [N] and c.912_913insTTG [C]. Among these mutations, c.179_180dupCG, c.50_53delGCCA, c.178_182delACGTinsTTT, c.243_244insGTCG, and c.923_924insCTC were novel mutations.

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