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Review
. 2023 May-Jun;39(3):206-210.
doi: 10.1097/IOP.0000000000002287. Epub 2022 Oct 20.

Aneurysmal Bone Cyst of the Orbit With USP6 Gene Rearrangement

Tracey Phan  1 , Jessica Tong  1   2 , Michael Krivanek  3 , Nicole Graf  3   4   5 , Mark Dexter  6 , Krishna Tumuluri  1   2   7
Affiliations
Review

Aneurysmal Bone Cyst of the Orbit With USP6 Gene Rearrangement

Tracey Phan et al. Ophthalmic Plast Reconstr Surg. 2023 May-Jun.

Abstract

Purpose: Aneurysmal bone cyst (ABC) of the orbit is a very rare tumor, occurring mostly in the pediatric population, and can result in sight threatening complications and disfigurement. This review discusses previously reported cases with a focus on evolving treatment options and molecular genetics.

Methods: We report the youngest case of an orbital ABC with a confirmed gene fusion: a 17-month-old girl, with confirmed FGFR-UPS6 (Fibroblast Growth Factor Receptor 1-ubiquitin specific peptidase 6/tre-2). A literature search for relevant publications on the topic was performed via Medline and PubMed, with the appropriate data extracted.

Results: Thirty-two cases of orbital aneurysmal bone cyst were identified in the literature. Presentations are varied and can include pain, proptosis, decreased vision, and extraocular motility disturbance. Typical imaging and histopathology findings are discussed, in particular the usefulness of identifying USP6 gene arrangements. Treatment modalities are reviewed including surgery, embolization, and receptor activator of nuclear factor kappa-B ligand (RANKL) inhibitors. Recurrences can occur, usually within 2 years.

Conclusions: Orbital ABC is a neoplasm that presents unique diagnostic and treatment challenges. Gene rearrangements can confirm primary ABC and rule out other underlying pathology. Disfigurement and sight threatening complications can occur due to both the disease process and with treatment. Outcomes may be improved with the use of systemic therapy.

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Conflict of interest statement

The authors have no financial or conflicts of interest to disclose.

References

    1. Jeremic P, Beale V, Cook A, Cheesman E, Abu-Seeriah M. Uncommon cause of progressive proptosis in a paediatric patient. Br J Oral Maxillofac Surg 2017;10:1.
    1. Mortaji H, Elghazi M, Zoubida B, et al. Aneurysmal bone cyst of the ethmoid on fibrous dysplasia: A usual association within a rare location. Radiol Case Rep 2019;14:1356–1359.
    1. Menon J, Brosnahan D, Jellinek D. Aneurysmal bone cyst of the orbit: a case report and review of literature. Eye 1999;13:764–768.
    1. Terkawi A, Al-Qahtani K, Soualmi L, et al. Fibrous dysplasia and aneurysmal bone cyst of the skull base presenting with blindness: a report of a rare locally aggressive example. Head Neck Oncol 2011;3:1–5.
    1. Alhumaid I, Abu-Zaid A. Denosumab therapy in the management of aneurysmal bone cysts: a comprehensive literature review. Cureus 2019;11:e3989–e4000.

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