Identification of a ring chromosome with spectral karyotyping in a pleural synovial sarcoma.
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.
Nishio
Jun
J
Department of Pathology, School of Medicine, Fukuoka University, Fukuoka, Japan. nishio@minf.med.fukuoka-u.ac.jp
Iwasaki
Hiroshi
H
Althof
Pamela A
PA
Naumann
Sabine
S
Ishiguro
Masako
M
Haraoka
Seiji
S
Iwashita
Akinori
A
Iwasaki
Akinori
A
Kaku
Yoshio
Y
Kaneko
Yasuhiko
Y
Kikuchi
Masahiro
M
Bridge
Julia A
JA
D000293:Adolescent; D002871:Chromosome Banding; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010997:Pleural Neoplasms / Q000235:genetics*; D015203:Reproducibility of Results; D012303:Ring Chromosomes; D013584:Sarcoma, Synovial / Q000235:genetics*; D032681:Spectral Karyotyping