Division of Pediatric Urology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Pediatr Blood Cancer. 2012 Aug;59(2):326-8. doi: 10.1002/pbc.23315. Epub 2011 Aug 16.
In Wilms tumor (WT), mutations in the gene encoding p53, TP53, are correlated with anaplasia; however TP53 variants have not been studied in favorable histology (FH) WTs. A single nucleotide polymorphism of TP53 encoding either arginine or proline at codon 72 is suggested to alter in vitro p53 behavior. Therefore, we analyzed tissue from 23 consecutive patients with FHWT to determine allelic and genotypic frequencies of Pro72 and Arg72 variants and correlate this with clinical outcomes. Interestingly, our cohort showed a statistically significant over-representation of the Arg allele and Arg/Arg genotype. However, the genotypic and allelic frequencies showed no significant correlation with age, stage, or disease recurrence.
在威尔姆斯瘤(WT)中,编码 p53 的基因 TP53 的突变与间变相关;然而,FH 型 WT 中尚未研究 TP53 变体。TP53 编码的脯氨酸或精氨酸的单一核苷酸多态性在体外改变 p53 行为。因此,我们分析了 23 例 FHWT 患者的组织,以确定 Pro72 和 Arg72 变体的等位基因和基因型频率,并将其与临床结果相关联。有趣的是,我们的队列显示 Arg 等位基因和 Arg/Arg 基因型的统计学上显著过表达。然而,基因型和等位基因频率与年龄、分期或疾病复发均无显著相关性。