title: Synovial sarcoma with radiological appearances of primitive neuroectodermal tumour/Ewing sarcoma: differentiation by molecular genetic studies.
abstract: Synovial sarcoma (SS) arises in soft tissues but may invade adjacent bone. We describe a case of SS presenting as aggressive lysis of the proximal ulna, the imaging of which suggested a primary bone lesion. Needle biopsy showed a "small round blue cell tumour", and a primitive neuroectodermal tumour (PNET)/Ewing sarcoma was suggested on the basis of the imaging appearances. The definitive diagnosis of synovial sarcoma was made following molecular genetic studies, which demonstrated a fusion product incorporating the genes SYT and SSX1. The importance of correct diagnosis to guide appropriate management, and, therefore, the necessity for molecular genetic studies, is discussed.
authors.affiliation: Department of Radiology, Royal National Orthopaedic Hospital NHS Trust, Brockley Hill, Stanmore, Middlesex, UK. paul.o'donnell@rnoh.nhs.uk
authors.forename: P
authors.initials: P
authors.lastname: O'Donnell
authors.forename: T C
authors.initials: TC
authors.lastname: Diss
authors.forename: J
authors.initials: J
authors.lastname: Whelan
authors.forename: A M
authors.initials: AM
authors.lastname: Flanagan
mesh_terms: D000328:Adult; D001859:Bone Neoplasms / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D003937:Diagnosis, Differential; D004551:Elbow Joint / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics; D018242:Neuroectodermal Tumors, Primitive / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D011859:Radiography; D012097:Repressor Proteins / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013584:Sarcoma, Synovial / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D014457:Ulna / Q000000981:diagnostic imaging / Q000473:pathology
chemical_list: D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins; C093961:SS18 protein, human; C093962:synovial sarcoma X breakpoint proteins