Cargando…
Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype
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 20...
Autores principales: | , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Society for Laboratory Medicine
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3289781/ https://www.ncbi.nlm.nih.gov/pubmed/22389883 http://dx.doi.org/10.3343/alm.2012.32.2.153 |
_version_ | 1782224900758437888 |
---|---|
author | Kim, Sollip Kim, Dong-Hwan (Dennis) Jang, Jun-Ho Jung, Chul-Won Jang, Mi-Ae Ki, Chang-Seok Kim, Jong-Won Kim, Sun-Hee Kim, Hee-Jin |
author_facet | Kim, Sollip Kim, Dong-Hwan (Dennis) Jang, Jun-Ho Jung, Chul-Won Jang, Mi-Ae Ki, Chang-Seok Kim, Jong-Won Kim, Sun-Hee Kim, Hee-Jin |
author_sort | Kim, Sollip |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3289781 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | The Korean Society for Laboratory Medicine |
record_format | MEDLINE/PubMed |
spelling | pubmed-32897812012-03-03 Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype Kim, Sollip Kim, Dong-Hwan (Dennis) Jang, Jun-Ho Jung, Chul-Won Jang, Mi-Ae Ki, Chang-Seok Kim, Jong-Won Kim, Sun-Hee Kim, Hee-Jin Ann Lab Med Brief Communication 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. The Korean Society for Laboratory Medicine 2012-03 2012-02-23 /pmc/articles/PMC3289781/ /pubmed/22389883 http://dx.doi.org/10.3343/alm.2012.32.2.153 Text en © The Korean Society for Laboratory Medicine. http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Brief Communication Kim, Sollip Kim, Dong-Hwan (Dennis) Jang, Jun-Ho Jung, Chul-Won Jang, Mi-Ae Ki, Chang-Seok Kim, Jong-Won Kim, Sun-Hee Kim, Hee-Jin Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype |
title | Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype |
title_full | Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype |
title_fullStr | Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype |
title_full_unstemmed | Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype |
title_short | Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype |
title_sort | novel mutations in cebpa in korean patients with acute myeloid leukemia with a normal karyotype |
topic | Brief Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3289781/ https://www.ncbi.nlm.nih.gov/pubmed/22389883 http://dx.doi.org/10.3343/alm.2012.32.2.153 |
work_keys_str_mv | AT kimsollip novelmutationsincebpainkoreanpatientswithacutemyeloidleukemiawithanormalkaryotype AT kimdonghwandennis novelmutationsincebpainkoreanpatientswithacutemyeloidleukemiawithanormalkaryotype AT jangjunho novelmutationsincebpainkoreanpatientswithacutemyeloidleukemiawithanormalkaryotype AT jungchulwon novelmutationsincebpainkoreanpatientswithacutemyeloidleukemiawithanormalkaryotype AT jangmiae novelmutationsincebpainkoreanpatientswithacutemyeloidleukemiawithanormalkaryotype AT kichangseok novelmutationsincebpainkoreanpatientswithacutemyeloidleukemiawithanormalkaryotype AT kimjongwon novelmutationsincebpainkoreanpatientswithacutemyeloidleukemiawithanormalkaryotype AT kimsunhee novelmutationsincebpainkoreanpatientswithacutemyeloidleukemiawithanormalkaryotype AT kimheejin novelmutationsincebpainkoreanpatientswithacutemyeloidleukemiawithanormalkaryotype |