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.
Lee
W
W
Department of Pediatrics, Catholic University Medical College, Seoul, Korea.
Han
K
K
Harris
C P
CP
Shim
S
S
Kim
S
S
Meisner
L F
LF
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