Case Report: Synovial sarcoma with diffuse myxoid stroma and complete absence of epithelial differentiation in the extremity - Takeaways - MDSpire

Case Report: Synovial sarcoma with diffuse myxoid stroma and complete absence of epithelial differentiation in the extremity

  • By

  • Tomohiro Miyazaki

  • Naoki Oike

  • Takashi Ariizumi

  • Yudai Murayama

  • Akira Ogose

  • Hideaki Sugino

  • Mai Nakamura

  • Shuhei Kondo

  • Yusuke Tani

  • Hajime Umezu

  • Hiroyuki Kawashima

  • May 29, 2026

  • 0 min

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  • 1

    Synovial sarcoma is defined by the SS18–SSX fusion gene and typically shows biphasic or monophasic histology with epithelial marker expression.

  • 2

    A 61-year-old woman presented with a soft tissue tumor on her thigh, which was initially suspected to be extraskeletal myxoid chondrosarcoma.

  • 3

    The tumor exhibited a diffuse myxoid stroma and lacked epithelial marker expression, complicating the diagnosis of synovial sarcoma.

  • 4

    Comprehensive genomic profiling confirmed the diagnosis of synovial sarcoma by identifying the SS18–SSX1 fusion gene.

  • 5

    The case highlights the importance of molecular analyses in diagnosing challenging soft-tissue tumors with atypical presentations.

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