title: WT1 mutations and single nucleotide polymorphism rs16754 analysis of patients with pediatric acute myeloid leukemia in a Chinese population.
abstract: Acute myeloid leukemia (AML) is relatively rare in children. Somatic mutations including the single nucleotide polymorphism (SNP) rs16754 in Wilms tumor 1 gene (WT1) and their prognostic relevance in pediatric AML have not been studied in Chinese populations. We analyzed WT1 mutations and rs16754 genotypes in a cohort of 86 patients with de novo pediatric AML in a Chinese population. We detected WT1 mutations in approximately 20% of the patients. Most of the mutations identified were deletions and insertions clustered in exons 7 and 9. No differences were observed with respect to overall survival and relapse-free survival between patients with and without WT1 mutations. The analysis of rs16754 in WT1 exon 7 revealed G as the major allele. Patients with the rs16754(GG) genotype had improved overall survival (p =0.020) and relapse-free survival (p =0.025) compared with those with either rs16754(GA) or rs16754(AA). Moreover, better overall survival (p =0.044) and relapse-free survival (p =0.068) were observed among patients with wild-type CEBPA with rs16754(GG) compared with those carrying rs16754(GA/AA).
authors.affiliation: Chongqing International Science and Technology, Chongqing, China.
authors.forename: Xi
authors.initials: X
authors.lastname: Chen
authors.forename: Yongchen
authors.initials: Y
authors.lastname: Yang
authors.forename: Yi
authors.initials: Y
authors.lastname: Huang
authors.forename: Junjie
authors.initials: J
authors.lastname: Tan
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Chen
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.forename: Hu
authors.initials: H
authors.lastname: Dou
authors.forename: Lin
authors.initials: L
authors.lastname: Zou
authors.forename: Jie
authors.initials: J
authors.lastname: Yu
authors.forename: Liming
authors.initials: L
authors.lastname: Bao
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005838:Genotype; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000401:mortality; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D025721:WT1 Proteins / Q000235:genetics*
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; C515848:CEBPA protein, human; D025721:WT1 Proteins