Use of FISH to detect chromosomal translocations and deletions. Analysis of chromosome rearrangement in synovial sarcoma cells from paraffin-embedded specimens.
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.
Department of Pediatrics, Catholic University Medical College, Seoul, Korea.
W
W
Lee
K
K
Han
C P
CP
Harris
S
S
Shim
S
S
Kim
L F
LF
Meisner
D000293:Adolescent; D000328:Adult; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D016612:Paraffin Embedding; D013584:Sarcoma, Synovial / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic; D014960:X Chromosome