First case report of a fetal synovial sarcoma confirmed by molecular detection of SYT-SSX fusion gene transcripts

Am J Perinatol. 2008 Sep;25(8):517-20. doi: 10.1055/s-0028-1085074. Epub 2008 Aug 21.

Abstract

Synovial sarcomas are aggressive malignant soft tissue tumors typically observed in adolescents and young adults. They are often characterized by the chromosomal translocation t(X;18)(p11.2;q11.2), which results in the expression of SYT-SSX fusion transcripts. We describe the first case of synovial sarcoma observed in a human fetus. The tumor occurred in the left upper arm and led to intrauterine fetal demise during gestational week 31. Grossly, the tumor measured 10 x 8 x 8 cm, appeared pinkish in color, and developed in the soft tissues of the left arm surrounding the humerus. Histologically, this large tumor showed a dense proliferation of homogeneous spindle cells with some necrotic areas. The positive detection of the SYT-SSX1 fusion transcripts with reverse-transcription polymerase chain reaction in formalin-fixed and paraffin-embedded tissue confirmed the synovial sarcoma diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arm
  • Biomarkers, Tumor / genetics*
  • Biomarkers, Tumor / metabolism
  • Fatal Outcome
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics
  • Fetal Diseases / metabolism
  • Fetal Diseases / pathology
  • Humans
  • Immunohistochemistry
  • Keratins / metabolism
  • Oncogene Proteins, Fusion / genetics*
  • Oncogene Proteins, Fusion / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sarcoma, Synovial / diagnosis*
  • Sarcoma, Synovial / genetics
  • Sarcoma, Synovial / metabolism
  • Sarcoma, Synovial / pathology
  • Soft Tissue Neoplasms / diagnosis*
  • Soft Tissue Neoplasms / genetics
  • Soft Tissue Neoplasms / metabolism
  • Soft Tissue Neoplasms / pathology
  • Translocation, Genetic

Substances

  • Biomarkers, Tumor
  • Oncogene Proteins, Fusion
  • SYT-SSX fusion protein
  • Keratins