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Orbital Cellular Myofibroma: A Rare Case With Detailed Vascular Characterization.

Sonia Anchouche1, Kenneth Chang1, Mohammad Altibi2

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A rare orbital cellular myofibroma, a vascular tumor, was diagnosed in a 30-year-old female. This case highlights diagnostic challenges and the importance of multidisciplinary care for rare orbital neoplasms.

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Area of Science:

  • Ophthalmology
  • Oncology
  • Pathology

Background:

  • Orbital tumors present diagnostic challenges, necessitating a broad differential diagnosis.
  • Cellular myofibroma is a rare mesenchymal tumor that can occur in various locations, including the orbit.

Purpose of the Study:

  • To report a rare case of orbital cellular myofibroma with a specific genetic finding.
  • To emphasize the diagnostic and management considerations for this rare orbital neoplasm.

Main Methods:

  • Case presentation of a 30-year-old female with proptosis and conjunctival injection.
  • Diagnostic workup including imaging, endovascular embolization, and surgical resection.
  • Histopathologic and molecular analysis to confirm tumor type and identify genetic alterations.

Main Results:

  • The orbital tumor was identified as an unencapsulated, vascular cellular myofibroma.
  • Molecular findings revealed a specific SRF::RELA gene fusion within the tumor.
  • Successful multidisciplinary management involving embolization and surgical resection was achieved.

Conclusions:

  • Orbital cellular myofibroma, though rare, should be considered in the differential diagnosis of orbital tumors.
  • The SRF::RELA gene fusion is a key molecular finding in this case.
  • Multidisciplinary management is crucial for optimizing outcomes in patients with rare orbital neoplasms.