Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1)

Hum Genet. 2003 Feb;112(2):178-85. doi: 10.1007/s00439-002-0848-6. Epub 2002 Nov 13.

Abstract

An alternative model has been proposed for the development of clear-cell renal cell carcinoma (RCC) in families where chromosome 3 translocations segregate with the disease. In this model, the existence of a translocation involving chromosome 3 would favour the non-disjunctional loss of the derivative chromosome carrying the 3p segment. Additionally, subsequent somatic mutations in the VLH gene, located in 3p25-26, would inactivate this tumour suppressor gene. In the present work, we describe a new family with two clear-cell RCC affected members and a t(3;8)(p13;q24.1) translocation in two consecutive generations. We observed loss of the derivative chromosome carrying the 3p segment (der(8)) and somatic mutation of the VHL gene in the left-kidney tumoral tissue of the proband. His right-kidney tumour carried a different VHL mutation and loss of heterozygosity (LOH) was not detected. The mother of the proband was also clear-cell RCC-affected but the tumoral tissue analysed did not carry any VHL gene mutations. Another member of the family, a maternal aunt, had a papillary RCC and did not carry this translocation, the LOH on 3p or the VHL somatic mutations. Haplotype analysis of the three affected members revealed that they did not inherit a common region on 3p, confirming the different genetic origin of both tumour types. Finally, the presence of RCC in other non-available members of the family highlights the overall risk for RCC in families with chromosome 3 translocations. In the present work, we have confirmed the proposed mechanism for the development of clear-cell RCC in this family, although we cannot discard the existence of other genes, in addition to VHL, being involved in hereditary RCC.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma, Clear Cell / genetics*
  • Adenocarcinoma, Clear Cell / pathology
  • Adult
  • Aged
  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology
  • Chromosome Aberrations
  • Chromosome Mapping
  • Chromosome Segregation
  • Chromosomes, Human, Pair 3 / genetics*
  • Chromosomes, Human, Pair 8 / genetics*
  • DNA, Neoplasm
  • Female
  • Genes, Tumor Suppressor
  • Genetic Diseases, Inborn
  • Heterozygote
  • Humans
  • In Situ Hybridization, Fluorescence
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Ligases / genetics
  • Loss of Heterozygosity*
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Mutation
  • Nucleic Acid Hybridization
  • Pedigree
  • Polymerase Chain Reaction
  • Translocation, Genetic*
  • Tumor Suppressor Proteins*
  • Ubiquitin-Protein Ligases*
  • Von Hippel-Lindau Tumor Suppressor Protein
  • von Hippel-Lindau Disease / genetics

Substances

  • DNA, Neoplasm
  • Tumor Suppressor Proteins
  • Ubiquitin-Protein Ligases
  • Von Hippel-Lindau Tumor Suppressor Protein
  • Ligases
  • VHL protein, human