Abstract
The genetics of Wilms' tumour (WT), a paediatric malignancy of the kidney, is complex. Inactivation of the tumour suppressor gene, WT1, is associated with tumour aetiology in approximately 10-15% of WTs. Chromosome 17p changes have been noted in cytogenetic studies of WTs, prompting us to screen 140 WTs for p53 mutations. When histopathology reports were available, p53 mutations were present in eight of eleven anaplastic WTs, a tumour subtype associated with poor prognosis. Amplification of MDM2, a gene whose product binds and sequesters p53, was excluded. Our results indicate that p53 alterations provide a molecular marker for anaplastic WTs.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Amino Acid Sequence
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Base Sequence
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Cell Differentiation
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DNA Mutational Analysis
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Female
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Gene Expression Regulation, Neoplastic
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Genes, p53*
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Humans
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Kidney Neoplasms / genetics*
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Kidney Neoplasms / pathology
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Male
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Molecular Sequence Data
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Neoplasm Proteins / genetics
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Nuclear Proteins*
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Polymerase Chain Reaction
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Prognosis
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Proto-Oncogene Proteins c-mdm2
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Proto-Oncogene Proteins*
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Tumor Suppressor Protein p53 / biosynthesis
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Wilms Tumor / genetics*
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Wilms Tumor / pathology
Substances
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Neoplasm Proteins
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Nuclear Proteins
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Proto-Oncogene Proteins
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Tumor Suppressor Protein p53
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MDM2 protein, human
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Proto-Oncogene Proteins c-mdm2