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Establishment of a Primary Culture of Patient-derived Soft Tissue Sarcoma
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Primary retroperitoneal synovial sarcoma (RSS): A case report.

Sarra Ben Rejeb1, Safia Sakly1, Majdi Ben Romdhane2

  • 1Pathology Department, Security Forces Hospital, Marsa, Tunisia.

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|January 31, 2025
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Summary

Retroperitoneal synovial sarcoma (RSS) is rare and often misdiagnosed as leiomyosarcoma. Accurate diagnosis requires immunohistochemistry and molecular testing to improve patient outcomes for this challenging soft tissue sarcoma.

Keywords:
RetroperitonealSynovialsarcomaTumor

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Area of Science:

  • Oncology
  • Pathology
  • Genetics

Background:

  • Retroperitoneal soft tissue sarcomas are predominantly leiomyosarcoma and liposarcoma.
  • Synovial sarcoma (SS) is an exceptionally rare retroperitoneal tumor, with fewer than 30 reported cases.
  • Misdiagnosis of SS is common due to its rarity and overlapping histological features with other sarcomas.

Observation:

  • A 38-year-old woman presented with a large, heterogeneous retroperitoneal mass.
  • Initial biopsy was inconclusive; histopathology suggested leiomyosarcoma.
  • Recurrent tumor showed increased cellularity and mitotic activity, prompting further investigation.

Findings:

  • Immunohistochemistry revealed BCL2, EMA, and TLE1 positivity, raising suspicion for SS.
  • Molecular analysis confirmed the SS18-SSX translocation, diagnosing high-grade monophasic synovial sarcoma.
  • The patient experienced rapid recurrence and mortality within six months despite treatment.

Implications:

  • Retroperitoneal synovial sarcoma (RSS) presents significant diagnostic challenges, necessitating consideration in the differential diagnosis of spindle cell tumors.
  • Immunohistochemical panels (TLE1, BCL2, EMA) and molecular confirmation (SS18-SSX fusion) are crucial for accurate diagnosis.
  • Early and accurate diagnosis of RSS is vital to avoid delayed management and improve patient outcomes.