title: [Analysis of CEBPA mutation in acute myeloid leukemia].
abstract: In order to evaluate the incidence of CCAAT/enhancer binding protein alpha (cebpa) gene mutation in patients with acute myeloid leukemia (AML), 22 AML patients with normal karyotype (NK-AML) were enrolled in this study, including de novo AML and relapsed AML. The cebpa gene was amplified by 2 stages using genomic DNA as template, the cebpa gene mutation amplified product was detected by direct sequencing or clone sequencing. The results showed that the cebpa mutations including deletion and insertion were found in 4 out of 22 AML patients (18.2%) and all of these 4 patients were M(2). Two patients had N-terminal nonsense mutation and the other two had C-terminal in-frame mutation. It is concluded that PCR combined with direct sequencing and clone sequencing can be used to detect cebpa mutations. cebpa mutations are mainly identified in M(2) subtype of NK-AML patients, its significance for prognosis needs to further investigate.
authors: Department of Hematology, Nanjing Medical University First Hospital, Jiangsu Provincial People Hospital, Nanjing 210029, Jiangsu Province, China.
authors: Yan
authors: Y
authors: Zhang
authors: Su-Jiang
authors: SJ
authors: Zhang
authors: Hong-Xia
authors: HX
authors: Qiu
authors: Chun
authors: C
authors: Qiao
authors: Hai-Min
authors: HM
authors: Sun
authors: Jian-Yong
authors: JY
authors: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D022763:CCAAT-Enhancer-Binding Protein-alpha / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009367:Neoplasm Staging; D055815:Young Adult
chemical_list: D022763:CCAAT-Enhancer-Binding Protein-alpha