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Novel mutations in CEBPA in Korean Patients with acute myeloid leukemia with a normal karyotype.


ABSTRACT: Mutations in the transcription factor CCAAT/enhancer binding protein ? 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.

SUBMITTER: Kim S 

PROVIDER: S-EPMC3289781 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature

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Novel mutations in CEBPA in Korean Patients with acute myeloid leukemia with a normal karyotype.

Kim Sollip S   Kim Dong-Hwan Dennis DH   Jang Jun-Ho JH   Jung Chul-Won CW   Jang Mi-Ae MA   Ki Chang-Seok CS   Kim Jong-Won JW   Kim Sun-Hee SH   Kim Hee-Jin HJ  

Annals of laboratory medicine 20120223 2


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 us  ...[more]

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