title: Synovial sarcoma with a secondary chromosome change der(22)t(17;22)(q12;q12).
abstract: 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.
authors.affiliation: Department of Pathology, School of Medicine, Fukuoka University, Fukuoka, Japan. nishio@minf.med.fukuoka-u.ac.jp
authors.forename: Jun
authors.initials: J
authors.lastname: Nishio
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Iwasaki
authors.forename: Masako
authors.initials: M
authors.lastname: Ishiguro
authors.forename: Yuko
authors.initials: Y
authors.lastname: Ohjimi
authors.forename: Teruto
authors.initials: T
authors.lastname: Isayama
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Naito
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Kaneko
authors.forename: Nanao
authors.initials: N
authors.lastname: Kamada
authors.forename: Masahiro
authors.initials: M
authors.lastname: Kikuchi
mesh_terms: 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
chemical_list: D017931:DNA Primers; D011506:Proteins; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins; C093961:SS18 protein, human