title: Synovial sarcoma: defining features and diagnostic evolution.
abstract: Synovial sarcoma (SS) is a malignant mesenchymal neoplasm with variable epithelial differentiation, with a propensity to occur in young adults and which can arise at almost any site. It is generally viewed and treated as a high-grade sarcoma. As one of the first sarcomas to be defined by the presence of a specific chromosomal translocation leading to the production of the SS18-SSX fusion oncogene, it is perhaps the archetypal "translocation-associated sarcoma," and its translocation remains unique to this tumor type. Synovial sarcoma has a variety of morphologic patterns, but its chief forms are the classic biphasic pattern, of glandular or solid epithelial structures with monomorphic spindle cells and the monophasic pattern, of fascicles of spindle cells with only immunohistochemical or ultrastructural evidence of epithelial differentiation. However, there is significant morphologic heterogeneity and overlap with a variety of other neoplasms, which can cause diagnostic challenge, particularly as the immunoprofile is varied, SS18-SSX is not detected in 100% of SSs, and they may occur at unusual sites. Correct diagnosis is clinically important, due to the relative chemosensitivity of SS in relation to other sarcomas, for prognostication and because of the potential for treatment with specific targeted therapies in the near future. We review SS, with emphasis on the diagnostic spectrum, recent immunohistochemical and genetic findings, and the differential diagnosis.
authors.affiliation: Sarcoma Unit, Royal Marsden Hospital, London UK. Electronic address: khin.thway@rmh.nhs.uk.
authors.forename: Khin
authors.initials: K
authors.lastname: Thway
authors.affiliation: Sarcoma Unit, Royal Marsden Hospital, London UK.
authors.forename: Cyril
authors.initials: C
authors.lastname: Fisher
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics; D002454:Cell Differentiation; D003937:Diagnosis, Differential; D004847:Epithelial Cells / Q000378:metabolism; D006801:Humans; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D013584:Sarcoma, Synovial / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*
chemical_list: D014408:Biomarkers, Tumor; D015514:Oncogene Proteins, Fusion
keywords: Genetics; Histopathology; SS18-SSX; SYT; Synovial sarcoma; TLE1; Translocation