Synovial sarcomas of three children in the first decade: clinicopathological and molecular findings

Pathol Int. 2000 Oct;50(10):818-23. doi: 10.1046/j.1440-1827.2000.01122.x.

Abstract

Synovial sarcoma in children below the age of 10 years is rare. We report on three cases of synovial sarcoma which were diagnosed in three children aged 3, 8 and 8 years, respectively. These tumors were located in the hip of the 8-year-old, the foot of the 3-year-old, and the elbow of the other 8-year-old. Histologically, one tumor was a biphasic synovial sarcoma, and the other two, which had been initially diagnosed as infantile fibrosarcoma, were of the monophasic fibrous type. In the three cases, a reverse transcription-polymerase chain reaction (RT-PCR) using ribonucleic acid extracted from formalin-fixed, paraffin-embedded tissues detected SYT-SSX1 fusion gene transcripts resulting from translocation t(X;18)(p11.2;q11.2), which is specific for synovial sarcoma. ETV6-NTRK3 fusion gene transcripts that result from t(12;15)(p13;q25), which is characteristic of congenital/infantile fibrosarcoma, were not demonstrated. In conclusion, other pediatric soft tissue sarcomas, such as congenital/infantile fibrosarcoma, spindle cell rhabdomyosarcoma, leiomyosarcoma and malignant peripheral nerve sheath tumor, should be distinguished from synovial sarcoma in children, especially the monophasic fibrous type. RT-PCR analysis is a useful approach to the final diagnosis of synovial sarcoma arising at such an early age.

Publication types

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

MeSH terms

  • Base Sequence
  • Biomarkers, Tumor / analysis
  • Child
  • Child, Preschool
  • DNA Primers / chemistry
  • DNA, Neoplasm / analysis
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Oncogene Proteins, Fusion / analysis
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sarcoma, Synovial / genetics
  • Sarcoma, Synovial / pathology*
  • Soft Tissue Neoplasms / genetics
  • Soft Tissue Neoplasms / pathology*

Substances

  • Biomarkers, Tumor
  • DNA Primers
  • DNA, Neoplasm
  • Oncogene Proteins, Fusion
  • SYT-SSX fusion protein