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Extraskeletal osteosarcoma of the orbit: A clinicopathologic case report and review of literature

1 Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
2 Department of Orbit and Oculoplasty, Bombay City Eye Hospital, Mumbai, India
3 Department of Pathology, Ghent University Hospital, Ghent, Belgium
4 Department of Medical Oncology, Ghent University Hospital, Ghent, Belgium

Correspondence Address:
V M D S de Maeyer,
Department of Ophthalmology, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium
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Source of Support: None, Conflict of Interest: None

Primary extraskeletal osteosarcoma (EOS) is an extremely rare malignancy. In this report, the clinical course of a 32-year-old man presenting with proptoses is described. Medical history included Hirschsprung disease (HD), horseshoe kidney, azoospermia, and vertebral anomalies. Imaging of the orbit showed an oval, well-defined heterogeneous mass adjacent to the lateral wall of the orbit. The patient underwent a lateral orbitotomy and complete excision of the mass. The mass was not attached to the bone. Histopathologic and immunohistochemical examination confirmed the diagnosis of an EOS. The patient received chemotherapy and radiotherapy and is free of the disease 3 years after the diagnosis. Genetic screening showed no mutations for both the RET proto-oncogene for HD and the p53 tumor suppressor gene for osteosarcoma.

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