title: Detection of SYT-SSX fusion transcripts in synovial sarcoma by reverse transcription-polymerase chain reaction using archival paraffin-embedded tissues.
abstract: The reciprocal translocation t(X;18)(p11;q11) is known to be highly characteristic of synovial sarcoma, and its consequence, an SYT-SSX fusion gene, is expected to be a diagnostic molecular marker. In this study, we conducted a reverse transcription-polymerase chain reaction-based assay to detect the SYT-SSX fusion gene transcripts using archival formalin-fixed, paraffin-embedded tumor specimens from a series of 32 synovial sarcoma cases including 6 tumors found in unusual anatomical sites. The SYT-SSX fusion transcripts could be detected in 30 of 32 paraffin-embedded specimens (94%). A subsequent sequence analysis using the polymerase chain reaction products confirmed that the detected messages were derived from either the SYT-SSX1 (22 cases) or SYT-SSX2 (8 cases) fusion gene. Of 23 SYT-SSX-positive monophasic tumors, 16 tumors had an SYT-SSX1 fusion transcript. Fusion transcripts were detectable in all the 7 biphasic tumors analysed, one of which had an SYT-SSX2 fusion transcript. All of the six tumors at unusual locations (lung; 3, metastasis to the abdominal cavity from a tumor of retroperitoneal origin; 1, sacral region; 1, iliopsoas muscle; 1) contained detectable messages. Our results indicate that this molecular assay can be applied to archival formalin-fixed, paraffin-embedded tumor tissues as a feasible and reliable molecular technique for the diagnosis of synovial sarcoma.
authors.affiliation: Department of Pathology and Oncology, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: M
authors.initials: M
authors.lastname: Hisaoka
authors.forename: Y
authors.initials: Y
authors.lastname: Morimitsu
authors.forename: H
authors.initials: H
authors.lastname: Hashimoto
authors.forename: S
authors.initials: S
authors.lastname: Shimajiri
authors.forename: S
authors.initials: S
authors.lastname: Komiya
authors.forename: M
authors.initials: M
authors.lastname: Ushijima
authors.forename: T
authors.initials: T
authors.lastname: Nakamura
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D014408:Biomarkers, Tumor / Q000032:analysis* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000032:analysis* / Q000235:genetics; D016612:Paraffin Embedding; D011506:Proteins / Q000032:analysis* / Q000235:genetics; D011518:Proto-Oncogene Proteins; D011993:Recombinant Fusion Proteins / Q000032:analysis; D012097:Repressor Proteins / Q000032:analysis* / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013584:Sarcoma, Synovial / Q000737:chemistry* / Q000235:genetics / Q000401:mortality / Q000473:pathology; D015996:Survival Rate; D014178:Translocation, Genetic
chemical_list: D014408:Biomarkers, Tumor; D009363:Neoplasm Proteins; D011506:Proteins; D011518:Proto-Oncogene Proteins; D011993:Recombinant Fusion Proteins; D012097:Repressor Proteins; C093961:SS18 protein, human; C093962:synovial sarcoma X breakpoint proteins