Low-grade fibromyxoid sarcoma of the orbit

ABSTRACT

A 70-year-old male presented with diplopia and painless proptosis of the left eye for 5 months. Examination showed 6 mm of axial proptosis and restriction of supraduction, abduction and adduction, and mild limitation of infraduction of the left eye. Magnetic resonance imaging demonstrated a large, moderately well-circumscribed intraconal mass in the left lateral orbit, and excisional biopsy was performed. Histopathologic features of mixed fibrous and myxoid areas in a whorl-like pattern and immunohistochemical staining for MUC4 confirmed the diagnosis of low-grade fibromyxoid sarcoma (LGFMS). Next-generation sequencing revealed genetic fusion of EWSR1-CREB3L1. LGFMS is an extremely rare neoplasm with only two prior documented cases of orbital involvement. Here, we report the third case of orbital LGFMS.

KEYWORDS:

• Fibromyxoid
• sarcoma
• orbit

Acknowledgments

None. This report adhered to the ethical principles outlined in the Declaration of Helsinki 2013. The collection and evaluation of protected patient health information were HIPAA compliant. Written informed consent was obtained from the patient.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the article.

Meeting presentation

This work was presented as a poster at the 53rd Annual Fall American Society of Ophthalmic Plastic and Reconstructive Surgery meeting.

Additional information

Funding

This work is supported by an Unrestricted Grant from Research to Prevent Blindness, Inc., to the Department of Ophthalmology at UCLA. Dr Rootman has acted as a marketing consultant for Horizon Pharmaceuticals and is a member of the speaker’s bureau. Dr Glasgow has been awarded the Edith and Lew Wasserman Professorship (BJG).