| http://purl.uniprot.org/citations/20513120 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20513120 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/20513120 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajh.21706"xsd:string |
| http://purl.uniprot.org/citations/20513120 | http://purl.uniprot.org/core/author | "Chen W."xsd:string |
| http://purl.uniprot.org/citations/20513120 | http://purl.uniprot.org/core/author | "Huang Q."xsd:string |
| http://purl.uniprot.org/citations/20513120 | http://purl.uniprot.org/core/author | "Lu Y."xsd:string |
| http://purl.uniprot.org/citations/20513120 | http://purl.uniprot.org/core/author | "Weiss L.M."xsd:string |
| http://purl.uniprot.org/citations/20513120 | http://purl.uniprot.org/core/author | "Stein A."xsd:string |
| http://purl.uniprot.org/citations/20513120 | http://purl.uniprot.org/core/author | "Chen W.'"xsd:string |
| http://purl.uniprot.org/citations/20513120 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20513120 | http://purl.uniprot.org/core/name | "Am J Hematol"xsd:string |
| http://purl.uniprot.org/citations/20513120 | http://purl.uniprot.org/core/pages | "426-430"xsd:string |
| http://purl.uniprot.org/citations/20513120 | http://purl.uniprot.org/core/title | "C/EBPA gene mutation and C/EBPA promoter hypermethylation in acute myeloid leukemia with normal cytogenetics."xsd:string |
| http://purl.uniprot.org/citations/20513120 | http://purl.uniprot.org/core/volume | "85"xsd:string |
| http://purl.uniprot.org/citations/20513120 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/20513120 |
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