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Biphasic Synovial Sarcoma With Neuroendocrine Differentiation: A Case Report.

Nicholas Phillipow1, Brian Hong2, Kaitlin Vanderbeck1

  • 1Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada ; and.

The American Journal of Dermatopathology
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Summary

Synovial sarcoma can mimic carcinoma, posing diagnostic challenges. This case highlights a rare superficial biphasic synovial sarcoma with neuroendocrine features, emphasizing the need for molecular testing to confirm diagnosis.

Keywords:
gene fusionimmunohistochemistryneuroendocrinepitfallsynovial sarcoma

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Area of Science:

  • Oncology
  • Pathology
  • Dermatopathology

Background:

  • Synovial sarcoma is a soft tissue neoplasm that can be misdiagnosed as carcinoma.
  • Accurate diagnosis is challenging in small or superficial biopsies due to overlapping histological and immunohistochemical features.

Purpose of the Study:

  • To report a rare case of superficial biphasic synovial sarcoma with neuroendocrine differentiation.
  • To highlight a potential diagnostic pitfall in dermatopathology.
  • To emphasize the importance of molecular testing in diagnosing challenging soft tissue neoplasms.

Main Methods:

  • Histological and immunohistochemical examination of a superficial soft tissue biopsy.
  • Surgical resection and subsequent pathological analysis.
  • Molecular testing to detect specific genetic fusions (SS18::SSX).

Main Results:

  • A superficial biphasic synovial sarcoma with significant neuroendocrine differentiation was identified.
  • Initial biopsy was misinterpreted as poorly differentiated carcinoma due to cytokeratin and neuroendocrine marker expression.
  • Molecular testing confirmed the SS18::SSX fusion, establishing the diagnosis of synovial sarcoma.

Conclusions:

  • Superficial synovial sarcoma can exhibit neuroendocrine differentiation, mimicking carcinoma.
  • Diagnostic challenges necessitate careful pathological evaluation and confirmatory molecular testing.
  • Molecular analysis is crucial for definitive diagnosis when sarcoma and carcinoma are differential diagnoses.