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Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation
  1. Constanze Uschkereit1,
  2. Noelia Perez2,
  3. Carmen de Torres3,
  4. Maike Küff1,
  5. Jaume Mora3,
  6. Brigitte Royer-Pokora1
  1. 1Institute of Human Genetics and Anthropology, Heinrich-Heine University, Düsseldorf, Germany
  2. 2Department of Pathology, Hospital Sant Joan de Deu, Barcelona, Spain
  3. 3Department of Oncology, Hospital Sant Joan de Deu, Barcelona, Spain
  1. Correspondence to:
 Dr B Royer-Pokora
 Institute of Human Genetics and Anthropology, Heinrich-Heine-University of Düsseldorf, Postfach 101007, D40001 Düsseldorf, Germany; royer{at}


We describe a patient with a novel WT1 pS50X germ line mutation, who developed bilateral Wilms tumours, both with stromal-type histology. Both tumours showed loss of the wild type WT1 allele (loss of heterozygosity (LOH)) and a tumour specific mutation in catenin beta1 (CTNNB1), S45P in the left and Δ45S in the right tumour. Molecular analysis of microdissected cells from the left tumour revealed the same S45P CTNNB1 mutation in blastema, tubuli, stroma and muscle, and a different CTNNB1 mutation (T41A) in stromal cells isolated from another area of the same slide. Microdissection of two areas of muscle cells from the right tumour revealed the same Δ45S mutation and no CTNNB1 mutation nor LOH of WT1 in normal kidney cells. One year later, the patient developed a new set of bilateral tumours. Both tumours showed LOH of the wild type WT1 allele, but different CTNNB1 mutations as in the first tumours: S45C on the right and S45F on the left side, demonstrating that these developed independently and are not relapses. This case demonstrates the high risk for the development of Wilms tumours in patients with germ line truncation mutations.

  • CTNNB1, catenin beta1
  • LOH, loss of heterozygosity
  • WT, Wilms’ tumour
  • WT1, Wilms Tumour 1
  • bilateral Wilms’ tumour
  • wt1 germ line mutation
  • ctnnb1 mutation
  • multiple independent tumours

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  • Competing interests: None declared

  • This work was supported by the Elterninitiative Kinderkrebsklinik e.V., Düsseldorf to B R-P and the Developmental tumour biology laboratory in Hospital Sant Joan de Deu, Barcelona, is supported by a generous gift from Fondo Margarita del Pozo.

    Parental informed consent was obtained for the publication of figure 1.