Case Report: Synaptophysin-positive SMARCA4-deficient undifferentiated thoracic tumour: a diagnostic pitfall with therapeutic implications - Takeaways - MDSpire

Case Report: Synaptophysin-positive SMARCA4-deficient undifferentiated thoracic tumour: a diagnostic pitfall with therapeutic implications

  • By

  • Chang-Sen Bai

  • Xiong-Wen He

  • Shu Lin

  • Bai-Cheng Xu

  • Qi-Xing Yan

  • Ming-Fa Wang

  • Yue-Can Zeng

  • Jing-Ru Luo

  • Wen-Jun Tang

  • June 5, 2026

  • 0 min

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  • 1

    SMARCA4-deficient undifferentiated thoracic tumor (SMARCA4-UT) is a rare, aggressive malignancy with a poor prognosis and no established standard therapy.

  • 2

    Isolated synaptophysin expression complicates the differential diagnosis of SMARCA4-UT, particularly from neuroendocrine tumors.

  • 3

    The patient in the case study achieved a durable partial response lasting over 12 months after platinum-based chemoimmunotherapy.

  • 4

    Isolated synaptophysin positivity in SMARCA4-UT may indicate limited lineage de-repression rather than true neuroendocrine differentiation.

  • 5

    Further studies are needed to clarify the diagnostic value of isolated synaptophysin positivity and its association with treatment response.

Original Source(s)

Case Report: Synaptophysin-positive SMARCA4-deficient undifferentiated thoracic tumour: a diagnostic pitfall with therapeutic implications

  • by Chang-Sen Bai, Xiong-Wen He, Shu Lin, Bai-Cheng Xu, Qi-Xing Yan, Ming-Fa Wang, Yue-Can Zeng, Jing-Ru Luo, Wen-Jun Tang

  • June 5, 2026

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