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首页> 外文期刊>Sao Paulo Medical Journal >Analysis of the p53 gene by PCR-SSCP in ten cases of Wilms’ tumor
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Analysis of the p53 gene by PCR-SSCP in ten cases of Wilms’ tumor

机译：PCR-SSCP分析10例Wilms肿瘤p53基因

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CONTEXT: Mutations of the p53 tumor suppressor gene are the most frequent alterations observed in human neoplasias affecting adults. In pediatric oncology, however, they have seldom been identified. Wilms’ tumor is a renal neoplasia commonly occurring in children and is associated with mutations of the WT1 gene. The correlation between Wilms’ tumor and alterations of the p53 gene has not been well established, with a low frequency of mutations having been reported in this type of tumor. Mutation may be associated with advanced stage disease and unfavorable histology. OBJECTIVE: To screen for mutations of the p53 gene by the PCR-SSCP method and DNA sequencing in cases of Wilms’ tumor sug-gestive of mutation. DESIGN: Case Report. CASE REPORT: Evaluations of exons 5-9 of the p53 gene in DNA samples extracted by PCR-SSCP from 10 Wilms’ tumors in children at different stages, and DNA sequencing. Changes in SSCP analy-sis were observed in exon 8 in two samples. The probable muta-tions were not confirmed by DNA sequencing. The absence of point mutations in p53 gene observed in the 10 samples of Wilms’ tumor studied agrees with literature data, with DNA sequencing being of fundamental importance for the confirmation of possible mutations.
机译：背景：p53抑癌基因的突变是影响成人的人类肿瘤中最常见的变化。然而，在儿科肿瘤学中，很少发现它们。威尔姆斯瘤是一种常见于儿童的肾脏肿瘤，与WT1基因的突变有关。 Wilms的肿瘤与p53基因改变之间的相关性尚未得到很好的建立，据报道这种类型的肿瘤发生突变的频率很低。突变可能与晚期疾病和不良组织学有关。目的：通过PCR-SSCP方法和DNA测序对Wilms肿瘤提示突变的p53基因突变进行筛查。设计：病例报告。病例报告：通过PCR-SSCP提取不同阶段儿童10例Wilms肿瘤中DNA样本中p53基因外显子5-9的评估，并进行DNA测序。在两个样品的第8外显子中观察到SSCP分析的变化。 DNA测序未证实可能的突变。在研究的10个Wilms肿瘤样本中观察到p53基因没有点突变与文献数据相符，DNA测序对于确认可能的突变至关重要。

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