Source:http://linkedlifedata.com/resource/pubmed/id/17875528
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
2007-9-18
|
| pubmed:abstractText |
Many European groups have recently described that mutations at exon-12 of the nucleophosmin (NPM1) gene are the most frequent genetic lesion in patients with acute myeloid leukemia (AML), especially in the presence of a normal karyotype. This study explored the prevalence and clinical profile of NPM1 mutations in a cohort of 156 Chinese adults with AML. NPM1 exon-12 mutations were detected using direct sequencing or fragment analysis of genomic DNA polymerase chain reaction products. NPM1 mutations were present in 28.2% of the overall population, including 1/1 (100%) of M0, 11/27 (40.7%) of M1, 11/46 (23.9%) of M2, 0/29 (0%) of M3, 2/9 (22.2%) of M4, 18/39 (46.2%) of M5, and 1/5 (20.0%) of M6. NPM1 gene mutations were more prevalent in patients with a normal karyotype (37 of 90; 41.1%) when compared with patients with karyotypic abnormalities (7 of 66; 10.6%;P < .001). Sequence analysis of 25 NPM1-mutated cases revealed known mutations (type A, D, N(M), and P(M)) as well as one novel sequence variation (here named as type S). All mutational types were heterozygous and showed a 4 bp insertion. NPM1 mutations were significantly associated with old age (P < .05), high peripheral white blood cell count (P < .05), and the subtypes of French-American-British categories M1/M5, but negatively associated with expression of CD34 (P < .05) and CD117 (P < .05). Thus, this study provides the methods of NPM1 exon-12 mutations detection and related clinical data of NPM1 mutated cases in a Chinese population.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Aug
|
| pubmed:issn |
0925-5710
|
| pubmed:author |
pubmed-author:CenJiannongJ,
pubmed-author:ChangWeirongW,
pubmed-author:ChenSuningS,
pubmed-author:HuiYu HuaYH,
pubmed-author:LiangJianyingJ,
pubmed-author:MaiKK,
pubmed-author:PanJinlanJ,
pubmed-author:WuDepeiD,
pubmed-author:WuYafangY,
pubmed-author:XueYongquanY,
pubmed-author:YanLingzhiL,
pubmed-author:ZhuZilingZ
|
| pubmed:issnType |
Print
|
| pubmed:volume |
86
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
143-6
|
| pubmed:dateRevised |
2009-11-19
|
| pubmed:meshHeading |
pubmed-meshheading:17875528-Adolescent,
pubmed-meshheading:17875528-Adult,
pubmed-meshheading:17875528-Age Factors,
pubmed-meshheading:17875528-Aged,
pubmed-meshheading:17875528-Antigens, CD34,
pubmed-meshheading:17875528-Asian Continental Ancestry Group,
pubmed-meshheading:17875528-China,
pubmed-meshheading:17875528-Chromosome Aberrations,
pubmed-meshheading:17875528-DNA Mutational Analysis,
pubmed-meshheading:17875528-Female,
pubmed-meshheading:17875528-Frameshift Mutation,
pubmed-meshheading:17875528-Humans,
pubmed-meshheading:17875528-Karyotyping,
pubmed-meshheading:17875528-Leukemia, Myeloid,
pubmed-meshheading:17875528-Leukocyte Count,
pubmed-meshheading:17875528-Male,
pubmed-meshheading:17875528-Middle Aged,
pubmed-meshheading:17875528-Molecular Epidemiology,
pubmed-meshheading:17875528-Mutation,
pubmed-meshheading:17875528-Nuclear Proteins,
pubmed-meshheading:17875528-Prevalence,
pubmed-meshheading:17875528-Proto-Oncogene Proteins c-kit
|
| pubmed:year |
2007
|
| pubmed:articleTitle |
Analysis of NPM1 gene mutations in Chinese adults with acute myeloid leukemia.
|
| pubmed:affiliation |
Department of Hematology, First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, Suzhou, PR China.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|