|Year : 2016 | Volume
| Issue : 2 | Page : 232-234
Extraskeletal myxoid chondrosarcoma of the orbit
Abdullah M Al-Osaily1, Faisal N Al-Dosari2, Mostaf A Elewa3, Sohail A Butt4
1 Department of Ophthalmology, Qassim University, Qassim, Saudi Arabia
2 Department of Ophthalmology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
3 Division of Oculoplasty, Dhahran Eye Specialist Hospital, Dammam, Saudi Arabia
4 Division of Histopathology, Dammam Regional Laboratory and Blood Bank, Dammam, Saudi Arabia
|Date of Web Publication||5-Apr-2016|
Abdullah M Al-Osaily
Department of Ophthalmology, Qassim University, Qassim
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Extraskeletal myxoid chondrosarcoma (EMC) is a rare soft tissue tumor. Numerous cases of EMC have been reported in different anatomical locations. There is currently only a single case of EMC of the orbit and that was reported in 1985. We report a second case of orbital EMC in a 34-year-old healthy male.
Keywords: Chondrosarcoma, Myxoid, Orbit
|How to cite this article:|
Al-Osaily AM, Al-Dosari FN, Elewa MA, Butt SA. Extraskeletal myxoid chondrosarcoma of the orbit. Middle East Afr J Ophthalmol 2016;23:232-4
|How to cite this URL:|
Al-Osaily AM, Al-Dosari FN, Elewa MA, Butt SA. Extraskeletal myxoid chondrosarcoma of the orbit. Middle East Afr J Ophthalmol [serial online] 2016 [cited 2019 Jun 17];23:232-4. Available from: http://www.meajo.org/text.asp?2016/23/2/232/171776
| Introduction|| |
Extraskeletal myxoid chondrosarcoma (EMC) is a rare soft tissue sarcoma. EMC was first described by Enzinger and Shiraki in 1972.  EMC accounts for approximately 2.5% of all soft tissue sarcomas.  To our knowledge, Bras et al. in 1985 reported the first case of orbital EMC. In the current case report, we represent a case of EMC arising from the orbit in a 34-year-old male. We report the presentation, diagnosis, treatment, histopathology, immunocytochemistry, and molecular genetic studies of this case.
| Case report|| |
A 34-year-old male without any known medical illnesses was referred to our clinic with 3 years history of the left orbital mass. Ophthalmic examination indicated a palpable firm inferotemporal orbital mass of the left globe with no skin changes. The patient's visual acuity, pupil, anterior segment, posterior segment, and optic nerve examinations were all within normal limits.
A brain and orbit computed tomography (CT) scan, both with and without contrast, demonstrated a well-circumscribed left inferotemporal orbital mass measuring 14 mm × 9.6 mm × 15.3 mm, with mild globe displacement but no involvement, bony invasion or remodeling and no attachment to the extraocular muscles and no optic nerve compression [Figure 1].
|Figure 1: Coronal (a) and sagittal (b) computed tomography scan with contrast showing a left inferotemporal heterogeneous orbital mass measuring 14 mm × 9.6 mm × 15.3 mm. The bony orbit appeared to be intact|
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A complete resection of the mass was undertaken for both diagnostic and therapeutic purposes. Histopathologic examination revealed a grey-tan multinodular soft tissue. Microscopically, the tumor comprised of spindle-shaped cells embedded within the myxoid matrix. The tumor cells were arranged in a reticular growth pattern, nests, and perivascular pseudo-rosette. There was no mitotic activity, there were small cells showing eosinophilic to vacuolated cytoplasm, oval to round nuclei with inconspicuous nucleoli, revealing perivascular arrangement in some regions, and nests and cords in a myxoid background [Figure 2]. Immunocytochemistry is presented in [Figure 2]c. Molecular genetic study utilizing fluorescence in situ hybridization was positive for Ewing Sarcoma Breakpoint Region 1 (EWSR1) chromosome.
|Figure 2: (a and b) Histopathology study, (a) small cells showing eosinophilic to vacuolated cytoplasm, oval to round nuclei with inconspicuous nucleoli, revealing perivascular arrangement in some areas (H and E, ×200). (b) Nests and cords in myxoid background (H and E, ×200). (c) Immunocytochemistry study showing vimentin reveals strong and intense diffuse expression (avidin-biotin complex technique, ×400)|
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On the basis of immunohistopathology and molecular genetic studies, the patient was diagnosed with EMC of the orbit.
The patient was sent for additional systemic investigations to the oncology center, which reported no evidence of metastasis. Throughout the 6 months follow-up after resection, there were no additional signs of local recurrence both clinically and with radiology studies.
| Discussion|| |
EMC is a rare soft tissue sarcoma, displaying its own special features. First described by Enzinger and Shiraki in 1972,  EMC accounts for approximately 2.5% of all soft tissue sarcomas.  EMC most commonly affects the lower extremities. 
Differentiation of EMC from other sarcomas is possible due to cytological and molecular genetic studies , in conjunction with clinicopathological features.
Several cases of EMC have been reported in different anatomical locations of the body,  with only a single previously reported case of EMC within the orbit. 
Chondrosarcoma is a misnomer used to describe the EMC at the histopathological level, and only minority of cases show evidence of well-formed hyaline cartilage. In addition, only a few cases of EMC have been found to be S100 positive, whereas skeletal chondrosarcomas nearly always stain positive. 
Gross examination of EMC usually indicates neoplasms as soft tissue multinodular with smooth surface that is fairly circumscribed.
Microscopically, the tumors present mostly as multinodular comprising of uniform round to oval or spindle-shaped cells embedded within the myxoid matrix and round to oval hyperchromatic nuclei and eosinophilic cytoplasm. The tumor cells are arranged in a reticular growth pattern, nests, cords, or strands. Mitotic activity is generally low.
Immunohistochemistry  indicates the tumor cells are usually intense diffuse positive staining for both vimentin and synaptophysin with a variable percentage of staining to S-100 protein, desmin, and epithelial membrane antigen (EMA).
Poor prognosis and an aggressive tumor is based on size larger than 10 cm with high cellularity; anaplasia and rhabdoid phenotype, with focal regions of Ki-67 staining >25%. 
Localized EMC is usually treated with a complete excision of the tumor with a wide surgical margin. Currently, there is no evidence of the effectiveness of adjunctive therapy such as radiation or chemotherapy if there are no signs of metastasis. The only EMC case previously reported in the orbit was treated with exenteration due to the aggressive tumor presentation cause very severe proptosis of the eye. 
In our case, the microscopic features were identical to previous reports with no mitotic activity or necrosis. Immunohistochemical assessment our case revealed intense diffuse cytoplasmic staining for vimentin and desmin. Synaptophysin appeared intense but focal. Cyclin D1 decorated more than 75% of the nuclei, and P53 and Ki-67 were present in 15% and <1% of nuclei, respectively. EMA; S100; Glial fibrillary acidic protein; pan-cytokeratin; actin MS all failed to express any immune-positivity. Molecular genetic studies were positive for EWSR1 chromosome. The patient was treated with complete resection of the mass with a wide surgical margin without adjunctive therapy.
To our knowledge, our case represents the second case in the English peer-reviewed literature.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
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[Figure 1], [Figure 2]