| C/EBPA gene mutation and C/EBPA promoter hypermethylation in acute myeloid leukemia with normal cytogenetics. | |
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MedLine Citation:
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PMID: 20513120 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In the current study, we investigated C/EBPA gene mutations and promoter hypermethylation in a series of 53 patients with CN-AML. In addition, we also analyzed two other frequent mutations (FLT3/ITD and NPM1) in these patients and correlated them with C/EBPA gene alterations. 13/53 patients were FLT3/ITD+/NPM1-, 11/53 patients were FLT3/ITD+/NPM1+, 9/53 patients were FLT3/ITD-/NPM1+, and 20/53 patients were FLT3/ITD-/NPM1-. Four of 53 cases displayed C/EBPA mutations, whereas 49 cases had only C/EBPA wild-type alleles. Of the four positive cases, three patients had N-terminal mutations only, whereas one patient had mutations in both the N- and C-terminal region. Two of the four positive cases also harbored both FLT3/ITD and NPM1 mutation simultaneously, whereas the other two patients had neither FLT3/ITD nor NPM1 mutations. Furthermore, 7/53 cases displayed C/EBPA promoter hypermethylation. Interestingly, they were all in CN-AML cases without FLT3/ITD or NPM1 mutations. None of the seven patients with C/EBPA promoter hypermethylation showed C/EBPA mutation. In conclusion, C/EBPA mutation and promoter hypermethylation can be detected at a relatively low frequency in de novo CN-AML patients, suggesting they may contribute to leukemogenesis. C/EBPA mutation appears to be seen in "high-risk" AML (FLT3/ITD+/NPM1+; FLT3/ITD+/NPM1- or FLT3/ITD-/NPM1-), while C/EBPA hypermethylation appears to be more common in AML with FLT3/ITD- /NPM1- and is not associated with C/EBPA mutation. |
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Authors:
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Ying Lu; Wengang Chen; Wei Chen; Anthony Stein; Lawrence M Weiss; Qin Huang |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of hematology Volume: 85 ISSN: 1096-8652 ISO Abbreviation: Am. J. Hematol. Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-31 Completed Date: 2010-06-21 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7610369 Medline TA: Am J Hematol Country: United States |
Other Details:
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Languages: eng Pagination: 426-30 Citation Subset: IM |
Copyright Information:
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2010 Wiley-Liss, Inc. |
Affiliation:
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Department of Pathology, City of Hope National Medical Center, Duarte, California 91010, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acute Disease Adult Aged CCAAT-Enhancer-Binding Proteins / genetics* Cell Transformation, Neoplastic / genetics DNA Methylation* DNA Mutational Analysis Female Humans Leukemia, Myeloid / genetics* Male Middle Aged Nuclear Proteins / genetics Promoter Regions, Genetic / genetics* Risk Young Adult fms-Like Tyrosine Kinase 3 / genetics |
| Chemical | |
Reg. No./Substance:
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0/CCAAT-Enhancer-Binding Proteins; 0/CEBPA protein, human; 0/Nuclear Proteins; 117896-08-9/nucleophosmin; EC 2.7.10.1/FLT3 protein, human; EC 2.7.10.1/fms-Like Tyrosine Kinase 3 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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