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.
Department of Pathology, School of Medicine, Fukuoka University, Fukuoka, Japan. nishio@minf.med.fukuoka-u.ac.jp
Jun
J
Nishio
Hiroshi
H
Iwasaki
Pamela A
PA
Althof
Sabine
S
Naumann
Masako
M
Ishiguro
Seiji
S
Haraoka
Akinori
A
Iwashita
Akinori
A
Iwasaki
Yoshio
Y
Kaku
Yasuhiko
Y
Kaneko
Masahiro
M
Kikuchi
Julia A
JA
Bridge
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