Identification of a ring chromosome with spectral karyotyping in a pleural synovial sarcoma

Cancer Genet Cytogenet. 2005 Jul 15;160(2):174-8. doi: 10.1016/j.cancergencyto.2004.12.012.

Abstract

The origin of a ring chromosome in a monophasic synovial sarcoma of the diaphragmatic pleura of an 18-year-old man was investigated using spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH). Conventional cytogenetic analysis revealed the following clonal karyotypic abnormalities: 47,Y,t(X;18)(p11.2;q11.2),t(11;19)(q12;q13.4),+12,-13,+r[6]. The SYT-SSX1 fusion transcript was detected with reverse transcriptase-polymerase chain reaction analysis. SKY analysis suggested that the ring chromosome was composed of material from chromosome 8. Subsequent FISH analysis with a whole-chromosome 8 paint probe confirmed the SKY results. This study demonstrates the usefulness of SKY as an adjunct for determining the chromosomal composition of ring chromosomes.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Chromosome Banding
  • Chromosomes, Human, Pair 8 / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Pleural Neoplasms / genetics*
  • Reproducibility of Results
  • Ring Chromosomes*
  • Sarcoma, Synovial / genetics*
  • Spectral Karyotyping