Telomere fusion as a mechanism for the progressive loss of the short arm of chromosome 11 in an anaplastic Wilms' tumor

Cancer. 1994 Jul 15;74(2):767-73. doi: 10.1002/1097-0142(19940715)74:2<767::aid-cncr2820740232>;2-f.


Wilms' tumor (WT) is associated with chromosomal deletions and loss of heterozygosity (LOH) of alleles at 11p13. The authors report the youngest known patient with diffusely anaplastic WT and, to their knowledge, the first case to demonstrate telomeric fusions as a chromosomal mechanism for the loss of bands 11p13 and 11p15 in WT. Recurrent clonal telomeric association (tas) initiated breakage/fusion cycles that resulted in deletions of chromosome bands 11p15, 11p13, and, subsequently, the entire short arm of chromosome 11. In addition, tas involving the long arms of chromosomes 7 and 9 resulted in the subsequent deletion of the long arm of chromosome 7. This report expands the spectrum of chromosomal mechanisms that can account for the loss of alleles on the short arm of chromosome 11 in WT by providing evidence that the progressive loss of critical chromosome regions associated with tumor suppression may occur as a result of chromosomal instability initiated by tas.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 11*
  • Genes, Wilms Tumor
  • Heterozygote*
  • Humans
  • Infant
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Male
  • Telomere*
  • Wilms Tumor / genetics*
  • Wilms Tumor / pathology