Synovial sarcoma with a secondary chromosome change der(22)t(17;22)(q12;q12).
A consistent, pathognomonic translocation, most commonly a balanced reciprocal translocation, t(X;18) (p11.2;q11.2), is found in more than 90% of synovial sarcomas. We report here a secondary chromosome change, der(22)t(17;22)(q12;q12), in addition to the primary t(X;18)(p11.2;q11.2) in a biphasic synovial sarcoma that occurred in the thigh of a 34-year-old woman. Although the karyotype of the primary tumor exhibited 46,X,t(X;18)(p11.2;q11.2), the recurrent tumor showed 46,X,der(X)t(X;18)(p11.2;q11.2),der(22) t(17;22)(q12;q12). The SYT-SSX1 fusion transcript was demonstrated in the primary and recurrent tumors using a reverse transcriptase polymerase chain reaction (RT-PCR). Southern blot analysis also confirmed that the detected messages were derived from the SYT-SSX fusion gene. However, we could not detect the EWS-E1AF fusion gene that has been reported to be generated through a t(17;22)(q12;q12) by RT-PCR. Furthermore, fluorescence in situ hybridization (FISH) with cosmid probes corresponding to loci flanking the EWSR1 region demonstrated no split of chromosome 22 in all analyzed interphase nuclei. To our knowledge, this is the first reported case of synovial sarcoma in which an additional (secondary) chromosome change, der(22)t(17;22)(q12;q12), has been demonstrated.
Nishio
Jun
J
Department of Pathology, School of Medicine, Fukuoka University, Fukuoka, Japan. nishio@minf.med.fukuoka-u.ac.jp
Iwasaki
Hiroshi
H
Ishiguro
Masako
M
Ohjimi
Yuko
Y
Isayama
Teruto
T
Naito
Masatoshi
M
Kaneko
Yasuhiko
Y
Kamada
Nanao
N
Kikuchi
Masahiro
M
D000328:Adult; D001483:Base Sequence; D015139:Blotting, Southern; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D017931:DNA Primers; D005260:Female; D006801:Humans; D007621:Karyotyping; D011506:Proteins / Q000235:genetics; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013584:Sarcoma, Synovial / Q000235:genetics* / Q000473:pathology; D014158:Transcription, Genetic; D014178:Translocation, Genetic
D017931:DNA Primers; D011506:Proteins; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins; C093961:SS18 protein, human