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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 2  |  Issue : 1  |  Page : 240-242

An aggressive orbital mass in a young patient


1 Oculoplastics, Singapore National Eye Centre, Singapore
2 Ocular Inflammation and Immunology Services, Singapore National Eye Centre, Singapore

Date of Submission05-Jan-2021
Date of Acceptance05-Jul-2021
Date of Web Publication07-Jan-2022

Correspondence Address:
Dr. Chai Teck CHOO
Senior Consultant, Oculoplastics, Singapore National Eye Centre, 11 Third Hospital Avenue - 168 751
Singapore
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_50_21

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  Abstract 


Undifferentiated pleomorphic sarcoma (UPS), earlier known as malignant fibrous histiocytoma, is a rare entity in the orbit. Here, we report a case of UPS in a 34-year male, who presented as rapidly progressive unilateral proptosis with no history of any other systemic diseases. The tumor was removed surgically, followed by adjuvant chemotherapy and radiotherapy. After one year follow-up, the patient had not shown any orbital recurrence but had lung and gastrointestinal metastasis. UPS is rare, but because of its aggressive behavior, it should be included in the differential diagnosis of orbital tumors.

Keywords: Immunohistochemistry, orbital tumors, undifferentiated pleomorphic sarcoma


How to cite this article:
Phulke S, CHOO CT, Chan A. An aggressive orbital mass in a young patient. Indian J Ophthalmol Case Rep 2022;2:240-2

How to cite this URL:
Phulke S, CHOO CT, Chan A. An aggressive orbital mass in a young patient. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Jan 21];2:240-2. Available from: https://www.ijoreports.in/text.asp?2022/2/1/240/334954



Undifferentiated pleomorphic sarcoma (UPS) is a very rare tumor of the orbit. Earlier, known as malignant fibrous histiocytoma (MFH), with new classification by WHO in 2002, it accounts for only 1–3% tumors arising from head and neck.[1],[2] As per the definition, UPS does not show any definitive histological or specific immunoreactivity. We report a rare case of UPS of orbit, which progressed very rapidly and had shown systemic metastasis.


  Case Report Top


A 34-year male patient presented to oculoplastics services with chief complaints of gradual progressive bulging of the left eye and diplopia for 1 month. The proptosis was significant (Hertel's exophthalmometry readings: 14 mm OD, 19 mm OS) [Figure 1]a with restricted left eye extraocular movement in upgaze. There was no history of any local or systemic illness. The proptosis was nonpulsatile without bruit. The ocular and systemic examination including cranial nerves and lymph nodes were within normal limits. Magnetic resonance imaging (MRI) of the orbit revealed a well-defined ovoid nodular mass in the muscle belly of medial rectus measuring 1.6 × 1.4 × 1.9 cm, just abutting the lamina papyracea. The mass had homogenous enhancement with intermediate signal intensity on both T1- and T2-weighted sequences [Figure 2]a. There were no infiltration of surrounding orbital tissues or bony erosion. The patient was planned for incisional biopsy and the histopathology report was suggestive of ectopic orbital meningioma. The patient was offered the left orbital radiotherapy. Before the commencement of radiotherapy, the proptosis worsened severely and on repeat MRI showed gross enlargement of the left orbital mass. The MRI showed an increase in the size of mass from 1.6 × 1.4 × 1.9 to 2.6 × 2.3 × 2.7 cm [Figure 2]b. There were serpiginous vessels within the mass. The optic nerve displaced laterally and anteriorly, it was abutting against the posteromedial aspect of the globe. There is no invasion of the globe. Posteriorly, the mass had extended into the left cavernous sinus through the superior orbital fissure. The patient was planned for preoperative arterial embolization to regress the vascularity of mass. Unfortunately, he developed left central retinal artery occlusion on the evening prior to the surgery. The histopathology report was labeled as a malignant spindle cell tumor [Figure 3]a, [Figure 3]b, [Figure 3]c, [Figure 3]d, [Figure 3]e, [Figure 3]f, [Figure 3]g. The patient further received adjuvant chemotherapy followed by radiotherapy. On follow-up, he had no perception of light in the left eye and no orbital recurrence was seen either clinically [Figure 1]b or on radiology scan [Figure 2]c and [Figure 2]d; however, the patient had gastrointestinal and lung metastases after 1-year primary orbital tumor excision. The histopathology report of the stomach was consistent with undifferentiated high-grade sarcoma.
Figure 1: Clinical photos of the patient. (a) Showing left eye proptosis. (b) After 4 months of excisional biopsy

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Figure 2: (a) T1-weighted magnetic resonance imaging (MRI) showing soft tissue mass (red arrow) in the left eye orbit centered at the medial rectus. (b) T2-weighted MRI showing increase in size of the mass displacing the optic nerve laterally (white arrow) and lamina papyracea medially extending through the superior orbital fissure into the left cavernous sinus. (c) After 3 months of excisional biopsy – MRI showing reduction in the size of the mass. (d) After 2 years of excisional biopsy, chemotherapy, and radiotherapy – CT axial scan showing stable thickening of medial rectus (red arrow)

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Figure 3: (a) Hematoxylin and Eosin (H &E) stain, 2x view of biopsy showing islands of a “blue cell” tumor separated by fibrous tissue. There is adjacent mature adipose tissue. (b) H & E stain, 20x view showing that the tumor cells comprise small round and spindle cells with minimal cytoplasm (c) 40x view H and E stain showing hyaline globules (Black arrow) (d) 40x view showing hyaline globules that are PAS-Diastase resistant (Black arrow) (e-g) 40x view with 3'- Diaminobenzideine chromagen staining positive for synaptophysin (e), CD56 (f), and CD99 (g)

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  Discussion Top


UPS earlier known as MFH, included in the World Health Organization's classification of soft tissue tumors since 2002.

After its re-classification, there have been no recent systematic reviews focussing on the re-evaluation of the epidemiology of UPS. The peak incidence is among people in the 6–7th decade of life, predominantly males (70%).[3],[4] Several morphologic subtypes of MFH are described, including storiform-pleomorphic (50–60%), myxoid (25%), giant cell (5–10%), and inflammatory (5%), although more than one of these patterns may be observed in a lesion. The myxoid variant is associated with a better prognosis compared with storiform. The etiology of UPS has been tried to be described in two ways. The more common is that these tumors carry varying tumors that can be unrelated but share a similar morphologic pattern. It is presumed that this tumor progressively becomes more undifferentiated resulting in a high-grade UPS. The second theory states these undifferentiated sarcomas are the results of the transformation of mesenchymal stem cells.[5]

The typical presentation of MFH is characterized by subacute onset of painless proptosis occasionally associated with loss of vision and diplopia.[6]

Radiological features of UPS including CT scan and MRI are very nonspecific. At CT, UPS appears as large lobulated soft tissue mass with attenuation similar to that of muscles with occasional calcification in 5–20% cases.

Undifferentiated sarcomas lack evidence of a mesenchymal lineage by immunohistochemical, cytogenic, and molecular analysis and are thus diagnosed by exclusion. Immunohostochemistry is performed to determine the possibility of mesenchymal lineage or other masquerades such as lymphomas. In our case, the initial immunohistochemistry showed strong positivity of spindle cells for vimentin and D2-40, and focally positive for epithelial membrane antigen (EMA) and smooth muscle actin. It was found to be negative for Desmin, CD99, Myogenin, S100, and HMB45. The second time performed immunohistochemistry showed the tumor cells positivity for synaptophysin, CD56, and CD99 and negative for vimentin, desmin, leucocyte common antigen, EMA, cytokeratin AE1/AE3, glial fibrillary acidic protein, and neurofilament protein.

The fluorescent in situ hybridization test is a type of cytogenetic technique used for the detection and localization of specific mutated nucleotide sequences (DNA or RNA) within tissues or cells specific for certain sarcomas such as Ewing sarcoma (EWS)/primitive neuroectodermal tumors (PNETs) and synovial sarcoma. Our case was negative for EWS/PNET mutation using probe EWSI BA at (22q12) and for synovial sarcoma mutation using probe SS18 (SYT) BA at (18q11.2).

Although some UPS may not exhibit any specific genetic alteration or complex karyotype, reports have shown that more than half of these tumors share similar gene expression profiles with other spindle cell and pleomorphic sarcoma most commonly myxofibrosarcoma, allowing for their reclassification based on genotype. The most commonly identified overexpressed genes in myxofibrosarcoma were GPR64 and TNXB.[7]

Mostly UPS are of high grade (3 or 4) and aggressive in their biological behavior. Orbital MFH was reported to have a 30% risk of metastases and a 5-year survival of approximately 50% similar to MFH in other locations. The tumor size, location (superficial or distal), and histological grade are some important prognostic factors.

Other than the conventional treatment options, the advance in molecular tests such as cytogenetics and gene expression profiling can help in the identification of specific genetic alterations of prognostic and treatment significance in UPS.


  Conclusion Top


Although rare, UPS should be considered in the differential diagnosis of orbital mass. Molecular genetics and advanced immunohistochemistry can work as an important diagnostic tool for these types of malignancies.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Jo VY, Fletcher CDM. WHO classification of soft tissue tumours: An update based on the 2013 (4th) edition. Pathology 2014;46:95-104.  Back to cited text no. 1
    
2.
Matushansky I, Charytonowicz E, Mills J, Siddiqi S, Hricik T, Cordon-Cardo C. MFH classification: Differentiating undifferentiated pleomorphic sarcoma in the 21st Century. Expert Rev Anticancer Ther 2009;9:1135-44.  Back to cited text no. 2
    
3.
Beyeler M, Kempf W, Hafner J, Burg G, Dummer R. The spectrum of mesenchymal skin neoplasms reflected by the new WHO classification. Onkologie 2004;27:401-6.  Back to cited text no. 3
    
4.
Weiss SW, Enzinger FM. Malignant fibrous histiocytoma: An analysis of 200 cases. Cancer 1978;41:2250-66.  Back to cited text no. 4
    
5.
Franceschini N, Verbruggen B, Tryfonidou MA, Kruisselbrink AB, Baelde H, de Visser KE, et al. Transformed Canine and Murine Mesenchymal Stem Cells as a Model for Sarcoma with Complex Genomics. Cancers (Basel) 2021;13:1126.  Back to cited text no. 5
    
6.
Font RL, Hidayat AA. Fibrous histiocytoma of the orbit. A clinicopathologic study of 150 cases. Hum Pathol 1982;13:199-209.  Back to cited text no. 6
    
7.
Nakayama R, Nemoto T, Takahashi H, Ohta T, Kawai A, Seki K, et al. Gene expression analysis of soft tissue sarcomas: Characterization and reclassification of malignant fibrous histiocytoma. Mod Pathol 2007;20:749-59.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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