Uncommon cause of progressive proptosis in a paediatric patient

Jeremic, Predrag; Beale, Victoria; Cook, Anne; Cheesman, Edmund; Abu-Serriah, M.

doi:10.1016/j.bjoms.2017.08.191

Cited by 1 publication

(8 citation statements)

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“…Orbital ABC is a benign, expansile, osteolytic lesion usually resulting in blood-filled cystic spaces. 1,18,19 The terminology can be misleading as the lesion is neither an aneurysm nor cyst. The term "aneurysmal" refers to the dilated radiological appearance of the lesion, and unlike a true cyst, ABC does not have an endothelial lining.…”

Section: Resultsmentioning

confidence: 99%

“…The current gold standard treatment for ABC of orbit is complete resection of the lesion 1,3,8,12,24 Complete excision is associated with a reduced rate of recurrence (5.6–32.7%), but surgical complications include hemorrhage, significant bone loss requiring grafting and morbidity risk. 1,7,12,24,25,29 Intralesional curettage is more frequently performed and can alleviate compressive effects, in cases where complete resection would result in unacceptable morbidity. 1,4,7,12,16,24 It is, however, associated with a higher overall recurrence rate (18–59%).…”

Section: Resultsmentioning

confidence: 99%

“…1,7,12,24,25,29 Intralesional curettage is more frequently performed and can alleviate compressive effects, in cases where complete resection would result in unacceptable morbidity. 1,4,7,12,16,24 It is, however, associated with a higher overall recurrence rate (18–59%). 12,23,24,28 Reconstructive techniques are varied and include titanium plates, bone grafts, and pericranial flaps.…”

Section: Resultsmentioning

confidence: 99%

“…Primary orbital aneurysmal bone cyst (ABC) is a rare, nonmalignant, neoplastic, and locally aggressive condition that typically affects individuals in the first 2 decades of life. 1–5 Untreated, sequelae include sight threatening complications and significant disfigurement. 6 The pathogenesis of ABC remains unclear, but most theories are predicated on elevated intraosseous haemodynamic pressures secondary to thrombosis, hemorrhage, and arteriovenous shunts that erode the affected bone.…”

mentioning

confidence: 99%

“…5,7,8,10,11 Although surgical excision is still widely accepted as the gold standard treatment, sclerotherapy, arterial embolization, denosumab, and interferon alpha-2a have been demonstrated as viable treatment options. 1–3,5,7,8,12–17…”

mentioning

confidence: 99%

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Aneurysmal Bone Cyst of the Orbit With USP6 Gene Rearrangement

Phan

Tong

Krivanek

et al. 2022

Ophthalmic Plastic &Amp; Reconstructive Surgery

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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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Section: Resultsmentioning

confidence: 99%