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

Jun Nishio, Hiroshi Iwasaki, Pamela A. Althof, Sabine Naumann, Masako Ishiguro, Seiji Haraoka, Akinori Iwashita, Akinori Iwasaki, Yoshio Kaku, Yasuhiko Kaneko, Masahiro Kikuchi, Julia A. Bridge

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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.

Original languageEnglish (US)
Pages (from-to)174-178
Number of pages5
JournalCancer genetics and cytogenetics
Volume160
Issue number2
DOIs
Publication statusPublished - Jul 15 2005

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ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

Cite this

Nishio, J., Iwasaki, H., Althof, P. A., Naumann, S., Ishiguro, M., Haraoka, S., ... Bridge, J. A. (2005). Identification of a ring chromosome with spectral karyotyping in a pleural synovial sarcoma. Cancer genetics and cytogenetics, 160(2), 174-178. https://doi.org/10.1016/j.cancergencyto.2004.12.012