Cytogenetic and fluorescence in situ hybridization studies on sporadic and hereditary tumors associated with von Hippel-Lindau syndrome (VHL)

Cancer Genet Cytogenet. 1994 Oct;77(1):1-13. doi: 10.1016/0165-4608(94)90141-4.

Abstract

We performed cytogenetic and fluorescence in situ hybridization (FISH) studies on 29 sporadic or familial tumors associated with von Hippel-Lindau [correction of Landau] disease. Four of five renal cell carcinomas with detectable alterations showed clones with chromosome 3 alterations. These changes led to loss of genetic material visible with cytogenetic resolution: either an unbalanced translocation involving 3p or loss of a whole homolog 3, resulting in monosomy of 3p. We have previously mapped the VHL gene to chromosomal region 3p25-p26. We applied FISH using the single copy probes cA233 and cA479, sequences close to the VHL gene, in a search for submicroscopic deletions of 3p. Use of FISH with differentially labeled probes indicated cA479 to be distal to cA233, but both were located within bands 3p25-26. FISH with single copy probes for interphase cytogenetics detected four subclones with deletions in the VHL region in 8/22 tumors, including four tumors which appeared cytogenetically normal. FISH proved to be a powerful tool in tumor genetic studies, especially helpful in detecting tumor subclones in benign and slowly growing tumors.

Publication types

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

MeSH terms

  • Adrenal Gland Neoplasms / genetics
  • Angiomatosis / genetics
  • Carcinoma, Renal Cell / genetics
  • Cerebellar Neoplasms / genetics
  • Chromosome Aberrations*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 3*
  • Hemangioblastoma / genetics
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Karyotyping
  • Kidney Neoplasms / genetics
  • Neoplastic Syndromes, Hereditary / genetics*
  • Pheochromocytoma / genetics
  • Polymorphism, Restriction Fragment Length
  • Retinal Diseases / genetics
  • Tumor Cells, Cultured
  • von Hippel-Lindau Disease / genetics*