title: A novel fluorescence in situ hybridization assay for synovial sarcoma.
abstract: Synovial sarcoma, which is difficult to diagnose precisely, is one of the most common childhood nonrhabdomyosarcoma soft-tissue sarcomas. The purpose of this study is to develop new molecular cytogenetic assay. We used two sets of two-color break-apart FISH probes, flanking either the SSX1/SSX4 or SSX2 locus. Each set of probes is composed of differentially labeled DNA fragments complementary to sequences proximal or distal to the break point within the SSX1/SSX4 or SSX2 locus, which are applied separately to histopathological sections. Interphase nuclei containing a translocation that disrupts either SSX1, SSX2, or SSX4 locus will display two single-color signals that have "broken apart" from each other. We applied it to two synovial sarcoma cell lines and clinical samples. This assay can detect translocation at either SSX1/SSX4, or SSX2 locus on interphase spread prepared from synovial sarcoma cell line and histopathological sections, which is sufficient to diagnose as synovial sarcoma. Our new FISH assay has several advantages, including its applicability to paraffin-embedded samples, discrimination of the SS18-SSX1 and SS18-SSX2 translocations particularly in cases with aneuploidy, and potentially detecting translocations in all cases of synovial sarcoma, even with variant translocations. Our strategy will improve the accuracy of diagnoses, thereby facilitating appropriate treatment planning.
authors.affiliation: Division of Pathology, Kanagawa Children's Medical Center, Yokohama, Japan. k-kato@ibaraki-kodomo.com
authors.forename: Keisuke
authors.initials: K
authors.lastname: Kato
authors.forename: Mio
authors.initials: M
authors.lastname: Tanaka
authors.forename: Yasunori
authors.initials: Y
authors.lastname: Toyoda
authors.forename: Hisato
authors.initials: H
authors.lastname: Kigasawa
authors.forename: Yokatsu
authors.initials: Y
authors.lastname: Ohama
authors.forename: Toshiji
authors.initials: T
authors.lastname: Nishi
authors.forename: Shigeharu
authors.initials: S
authors.lastname: Okuzumi
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
authors.forename: Noriko
authors.initials: N
authors.lastname: Aida
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Nagahara
authors.forename: Yukichi
authors.initials: Y
authors.lastname: Tanaka
mesh_terms: D014408:Biomarkers, Tumor; D045744:Cell Line, Tumor; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D009363:Neoplasm Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000378:metabolism; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D015203:Reproducibility of Results; D013584:Sarcoma, Synovial / Q000175:diagnosis / Q000235:genetics*; D012983:Soft Tissue Neoplasms / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D014408:Biomarkers, Tumor; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins; C093961:SS18 protein, human; C093962:synovial sarcoma X breakpoint proteins