Mutations/deletions of the WT1 gene, loss of heterozygosity on chromosome arms 11p and 11q, chromosome ploidy and histology in Wilms' tumors in Japan

Int J Cancer. 2001 Nov 1;94(3):396-400. doi: 10.1002/ijc.1475.


Incidence rates of Wilms' tumor (WT) markedly differ in East Asian and Caucasian children. In the present study, we examined WT1 deletions/mutations and loss of heterozygosity (LOH) on 11p and 11q in a large number of WTs and compared our findings with those from 4 series of Caucasian WTs. Incidence rates of the subtle WT1 mutation in 3 of the 5 series of sporadic and unilateral WTs including ours were 4.3-6.2% and similar. However, gross homozygous WT1 deletion was more frequent in our series than in some others. In addition, our series tended to show a higher incidence of LOH limited to 11p13 and a lower incidence of LOH including 11p15 than the Caucasian one. These findings indicate some genetic differences in WT between the 2 regions. One of the 4 Caucasian series reported a correlation of germinal WT1 mutation with the predominantly stromal histology. The present study not only confirms the correlation of germinal WT1 deletion/mutation with predominant stromal histology but also establishes a correlation with somatic WT1 deletion/mutations with predominant stromal histology. While WTs with WT1 abnormalities usually showed pseudodiploidy and predominant stromal histology, those without WT1 abnormalities showed various chromosome numbers and histologic subtypes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Asians
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 11*
  • Female
  • Gene Deletion*
  • Homozygote
  • Humans
  • Infant
  • Japan
  • Loss of Heterozygosity*
  • Male
  • Mutation*
  • Ploidies*
  • WT1 Proteins / genetics*
  • Whites
  • Wilms Tumor / ethnology
  • Wilms Tumor / genetics*


  • WT1 Proteins