Synovial sarcoma with radiological appearances of primitive neuroectodermal tumour/Ewing sarcoma: differentiation by molecular genetic studies

Skeletal Radiol. 2006 Apr;35(4):233-9. doi: 10.1007/s00256-005-0006-z. Epub 2005 Oct 12.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Bone Neoplasms / diagnosis*
  • Bone Neoplasms / diagnostic imaging
  • Bone Neoplasms / genetics
  • Diagnosis, Differential
  • Elbow Joint / diagnostic imaging
  • Elbow Joint / pathology
  • Humans
  • Male
  • Neoplasm Proteins / genetics
  • Neuroectodermal Tumors, Primitive / diagnosis*
  • Neuroectodermal Tumors, Primitive / diagnostic imaging
  • Neuroectodermal Tumors, Primitive / genetics
  • Proto-Oncogene Proteins / genetics
  • Radiography
  • Repressor Proteins / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sarcoma, Synovial / diagnosis*
  • Sarcoma, Synovial / diagnostic imaging
  • Sarcoma, Synovial / genetics
  • Ulna* / diagnostic imaging
  • Ulna* / pathology

Substances

  • Neoplasm Proteins
  • Proto-Oncogene Proteins
  • Repressor Proteins
  • SS18 protein, human
  • synovial sarcoma X breakpoint proteins