Case Report: Thoracic SMARCA4-deficient undifferentiated tumor with extraocular muscle metastasis: a rare case hidden in diplopia - Takeaways - MDSpire

Case Report: Thoracic SMARCA4-deficient undifferentiated tumor with extraocular muscle metastasis: a rare case hidden in diplopia

  • By

  • Bingying Liu

  • Xuan Wang

  • Yongqing Liu

  • Jue Wang

  • Wanzhen Jiao

  • July 9, 2026

  • 0 min

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  • 1

    Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UT) are aggressive malignancies with early metastasis and loss of SMARCA4 expression.

  • 2

    A 60-year-old man presented with binocular diplopia and ocular pain, revealing an isolated metastasis to the inferior rectus muscle.

  • 3

    Imaging initially suggested an orbital inflammatory pseudotumor, but surgical excision confirmed the diagnosis of SMARCA4-UT.

  • 4

    The patient had a primary lung lesion with mediastinal lymphadenopathy and adrenal involvement, leading to rapid disease progression.

  • 5

    This case highlights the diagnostic challenges of atypical orbital lesions and the need for early tissue diagnosis in unresponsive cases.

Original Source(s)

Case Report: Thoracic SMARCA4-deficient undifferentiated tumor with extraocular muscle metastasis: a rare case hidden in diplopia

  • by Bingying Liu, Xuan Wang, Yongqing Liu, Jue Wang, Wanzhen Jiao

  • July 9, 2026

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