Use of FISH to detect chromosomal translocations and deletions. Analysis of chromosome rearrangement in synovial sarcoma cells from paraffin-embedded specimens

Am J Pathol. 1993 Jul;143(1):15-9.

Abstract

Retrospective cytogenetic analysis was performed on paraffin-embedded cells from five cases of synovial sarcoma to evaluate the frequency of the X;18 translocation characteristic of this tumor. Fluorescent in situ hybridization with DNA probes for the centromeres of chromosomes X and 18 was used with whole chromosome painting probes for X and 18. Translocation was inferred when there were only two X and 18 centromere signals but three painting probe signals of unequal size. On this basis it was possible to identify the t(X;18) in three cases. The fourth case was found to have extra copies of chromosome 18 without translocation, while the fifth case, the only one with a questionable diagnosis, had a normal chromosome pattern with a minor clone showing a translocated 18 but a normal X. Thus this study demonstrates the feasibility and value of using fluorescent in situ hybridization to detect chromosome rearrangements in archival tumor specimens.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 18*
  • Female
  • Gene Rearrangement
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Male
  • Middle Aged
  • Paraffin Embedding
  • Sarcoma, Synovial / genetics*
  • Sarcoma, Synovial / pathology
  • Translocation, Genetic*
  • X Chromosome*