Nature Genetics
7, 91 - 97 (1994)
doi:10.1038/ng0594-91
Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutationsNabeel Bardeesy1, David Falkoff1, Mary-Jane Petruzzi2, Norma Nowak2, Bernhard Zabel3, Mohammed Adam4, Maria C. Aguiar5, Paul Grundy6, Tom Shows2
& Jerry Pelletier1, 7, 8
1Department of Biochemistry McGill University, 3655 Drummond St., Montreal, Canada, H3G 1Y6
2RoswellPark Memorial Institute, State University of New York at Buffalo, New York 14263, USA
3Department of Pediatrics, University of Mainz, Langenbeck Str. 1, D-6500 Mainz, Germany
4Department of Molecular Biology, Merck-Frosst Center for Therapeutic Research, P.O. Box 1005, Pointe Claire-Dorval, Quebec, Canada, H9R 4P8
5Izaak Walton Killam Children's Hospital 5850 University Aveue, P.O. Box 3070, Halifax, Nova Scotia, Canada, B3J 3G9
6Molecular Oncology Program, Cross Cancer Institute, 11560 University Avenue, Edmonton, Alberta, Canada T6G 1Z2
7McGill Cancer Center, McGill University, 3655 Drummond St., Montreal, Canada, H3G 1Y6
8Correspondence should be addressed to J.P. 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  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.
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