Table of Contents  
CASE REPORT
Year : 2021  |  Volume : 29  |  Issue : 1  |  Page : 62-64

Alveolar Soft Part Sarcoma of the Orbit: A Clinicopathological Report of a Rare Case and Review of the Literature


1 Department of Ophthalmology, University of Maiduguri Teaching Hospital, Maiduguri, Nigeria
2 Department of Human Pathology, University of Maiduguri, Nigeria

Date of Submission07-Jun-2020
Date of Decision01-Feb-2021
Date of Acceptance18-Mar-2021
Date of Web Publication16-Jul-2021

Correspondence Address:
Z Y Musa
Department of Ophthalmology, University of Maiduguri Teaching Hospital, Maidugur
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/njo.njo_24_20

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  Abstract 


Background: Alveolar soft part sarcoma (ASPS) of the orbit is a very rare neoplasm with an uncertain histogenesis. The tumor has an indolent clinical course that requires close and long-term follow-up due to late recurrence and metastasis. Surgery is the primary treatment option with adjunct radiotherapy. Case Report: We present the case of a 25-year-old male who presented with a 5-year history of progressive left eye swelling and loss of vision. He underwent left eye exenteration and histology diagnosed ASPS of the orbit. Conclusion: Orbital ASPS is an uncommon soft tissue tumor. Its prognosis is determined by patient’s age, tumor size, and presence of metastasis at the time of diagnosis. Close and long-term monitoring of the patient is required as recurrence is known to occur up to 10 years after treatment.

Keywords: Alveolar soft part sarcoma, exenteration, orbit, rare


How to cite this article:
Musa Z Y, Askira B H, Zarami A B, Pindiga U H. Alveolar Soft Part Sarcoma of the Orbit: A Clinicopathological Report of a Rare Case and Review of the Literature. Niger J Ophthalmol 2021;29:62-4

How to cite this URL:
Musa Z Y, Askira B H, Zarami A B, Pindiga U H. Alveolar Soft Part Sarcoma of the Orbit: A Clinicopathological Report of a Rare Case and Review of the Literature. Niger J Ophthalmol [serial online] 2021 [cited 2021 Nov 30];29:62-4. Available from: http://www.nigerianjournalofophthalmology.com/text.asp?2021/29/1/62/321640




  Introduction Top


Orbital alveolar soft part sarcoma (ASPS) is an extremely rare mesenchymal neoplasm.[1],[2] The tumor constitutes less than 1% of the entire soft tissue sarcomas.[2] In an adult, the thigh is the common location and that is closely followed by female genital tract,[2],[3] while the head and neck region is the commonest site in pediatric age groups.[2],[3] The presence of the tumor in the orbit is very uncommon,[1],[2],[3],[4] and generally this rare tumor has an indolent clinical course, thereby mimicking benign neoplasm clinically.[2],[4] Orbital ASPS has been described to occur in both adult and children with equal sex incidence in pediatric age groups.[4] The histogenesis of the neoplasm is uncertain,[4] although it is associated with a chromosomal translocation involving the TFE3 gene.[3] Also, the tumor has variable and nonspecific immunohistochemical receptor expression,[4],[5] making morphology the main reliable diagnostic method.[2],[3],[4] Surgery and postoperation radiotherapy remain the primary treatment of choice; however, the tumor has 11% to 50% rate of recurrence despite treatment.[4] The role of neoadjuvant chemotherapy was reported to have no benefit.[4] That shows close and long-term follow-up of the patient is highly required. The rarity of orbital ASPS in the literature prompted the need for this case report.


  Case Report Top


We report the case of a 25-year-old male who presented to the eye clinic of the University of Maiduguri Teaching Hospital with a 5-year history of progressive left eye swelling and progressive decrease in vision. He lost vision completely in the said eye 3 months before presentation. There was no history of cough or headaches. Examination showed a healthy-looking young man. Visual acuity was 6/6 in the right eye and nil light perception (NPL) in the left eye, respectively. The right eye was within normal limits. The left eye was proptosed with massive chemosis and exposure keratopathy [Figure 1]. There was a mass measuring approximately 6 × 4 cm inferior to the left lower lid that was firm, nontender, nonpulsatile, and freely mobile. There was no bruit heard over the mass. The patient couldn’t afford a computed tomography (CT) scan; however, skull X-ray showed a fairly oval mass of soft tissue density projected over the left orbit. No calcifications were seen within the mass and no underlying bony destruction was seen. Chest X-ray was normal. His hematological and biochemical parameters were all within normal limits. The patient was counselled for surgery. The patient underwent exenteration under general anaesthesia. Intraoperatively, there was profuse bleeding from the tumor with an estimated blood loss of about 800 mL. He had an intraoperative blood transfusion of two pints of blood. Postoperatively patient did very well and had a pint of blood transfusion. The histology was diagnosed as ASPS [Figure 2]A, B. Photomicrograph of the histopathological preparations of tissues from the patiennt’s exenterated left eye. We referred the patient for radiotherapy. Six months after surgery he was unable to go for the radiotherapy for financial reasons. On that visit, there were clinically no signs of recurrence or metastasis seen.
Figure 1 Clinical picture showing left eye proptosis, chemosis and exposure keratopathy

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Figure 2 Photomicrograph; sections show tissue displaying malignant mesenchymal neoplasm that is disposed in alveolar and organoid pattern (A) invading a thin fibrous stroma. The neoplastic cells have round to ovoid hyperchromatic to vesicular nuclei with prominent nucleoli and moderate granular cytoplasm (B). There are few mitotic figures present

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  Discussion Top


Orbital ASPS is extremely rare mesenchymal neoplasm,[1],[2] and it constitutes 0.5% to 0.9% of all soft tissue sarcomas.[2] The tumor was first described by Christopherson in 1952. It was initially called malignant granular cell myoblastoma and malignant nonchromaffin paraganglioma.[1] Since the discovery of the neoplasm, only 22 cases of orbital alveolar soft tissue sarcoma were reported in the English literature from 1963 to 2014.[2] In a report on tumor of the eye and orbit from Nigeria, 17% were sarcoma with no case of ASPS found.[6] This rare tumor has an indolent clinical course, thereby mimicking benign neoplasms clinically.[2],[4] The indolent nature of the disease was seen in our patient who presented with a 5-year history of progressive left eye swelling and progressive decrease in vision with no history of pain. In a series of reported orbital ASPS, the common presentation was nonpulsatile and nonreducible proptosis, anorthopia, swelling, and ocular motility restriction.[2] Other presenting features are pain and loss of vision due to optic nerve compression.[2] In most cases, ASPS predominantly affects thigh and buttocks; the arms, thorax, and retroperitoneum are rare sites.[1],[2],[3] The most common location of the tumor in children is the orbit and tongue.[4] In the orbital region, in about 64% of cases the left eye is more involved than the right eye,[2] as in the index case and to our knowledge there are no reported cases of bilateral orbital involvement. The tumor is more common among females than males; in the adult type, 60% of cases are reported in females, while there are no sex incidence in pediatric age group.[2] In one series, the average orbital tumor diameter of 3.6 cm was reported with the age of patients ranging from 2 to 51 years,[2] and patients less than 20 years constitute 75% of the reported cases. The index case is a 25-year-old male. The histogenesis of the neoplasm is uncertain,[4] though it is associated with specific unbalance chromosomal translocation {der 17t(X;17)(p11;q25)}, which leads to rearrangement and fusion of ASPL and TFE3 genes resulting in the formation of the ASPL-TFE3 fusion gene.[3] The hypothesis of myogenic origin of ASPS has also been reported.[2]

The tumor (orbital ASPS) grossly appears poorly circumscribed grey-yellow mass that is soft and friable with areas of hemorrhage.[2],[3],[4] Microscopically, it has an organoid arrangement in a nesting or alveolar pattern.[2] The tumor cells are separated by delicate thin fibrous septae of connective tissue with sinusoidal vascular channels.[5],[7],[8] The neoplastic cells are fairly uniform and have hyperchromatic to vesicular nuclei some with 1 to 2 prominent nucleoli and moderate to abundant granular eosinophilic cytoplasm. Mitotic figures are exceptional [Figure 2]A, B. The tumor has variable and nonspecific immunohistochemical receptor expression, which includes CD34, TFE-3, CD99, CD68, desmin, vimentin, and S-100 protein, positive, and it has made morphology haematoxylin and eosin (H and E) as the main reliable diagnostic technique.[1],[2],[3],[4],[5]

On imaging studies, the tumor may show moderate internal reflectivity by A-scan with minimal attenuation and good transmission.[9] CT usually shows a well-defined mass with a smooth outline and possible bright enhancement. Magnetic resonance imaging may show ASPS as a circumscribed isodense mass with minimal to moderate enhancement.[8] An X-ray of the skull was done on our patient because he could not afford CT and this showed an oval soft tissue mass density projected over the left orbit with no calcifications seen within the mass or any underlying bone destruction.Generally, surgery remains the primary treatment option with either partial or total tumor resection or orbital exenteration.[2],[4],[8],[10],[11],[12],[13] Our patient underwent exenteration of the left eye. Radiotherapy as an adjunct therapy has been demonstrated to decrease the risk of local recurrence.[14],[15] Chemotherapy as an adjunct to surgery has shown limited benefit.[4] Close and long-term follow-up is required as recurrence or metastasis is known to occur up to 10 years after treatment.[4],[8] Favorable prognostic factors include younger age (first and second decades of life), tumor size less than 5 cm, and absence of metastasis (usually to lungs, brain, and bones) at diagnosis.[8] Others include tumor location, orbit and tongue have a good prognosis while Ki-67 index >10% has a poor prognosis.[1],[2]. Although we have referred our patient for radiotherapy, he was not able to go for it as of the last follow-up visit at 6 months after surgery. However, there were no clinical signs suggestive of recurrence or metastasis at the time of the visit.


  Conclusion Top


ASPS of the orbit is a rare neoplasm with an indolent clinical course that requires close and long-term follow-up due to late recurrence and metastasis. Surgery remains the primary treatment option.

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Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Kumar GK, Nemade H, Krishnamohan XX, Fonseca D, Rao LM, Rao ST. Rare case report of alveolar soft part sarcoma of the orbit. Indian J Surg Oncol 2017;8:234-9.  Back to cited text no. 1
    
2.
Hei Y, Kang L, Yang X et al. Orbital alveolar soft part sarcoma: a report of 8 cases and review of the literature. Oncol Lett 2018;15:304-14.  Back to cited text no. 2
    
3.
Argyris PP, Reed RC, Manivel JC et al. Oral alveolar soft part sarcoma in childhood and adolescence: report of two cases and review of literature. Head Neck Pathol 2013;7:40-9.  Back to cited text no. 3
    
4.
Mulay K, Ali MJ, Honavar SG, Reddy VP. Orbital alveolar soft-part sarcoma: clinico-pathological profiles, management and outcomes. J Can Res Ther 2014;10:294-8.  Back to cited text no. 4
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5.
Coupland SE, Heimann H, Hoffmeister B, Lee WR, Foerster MH, Gross U. Immunohistochemical examination of an orbital alveolar soft part sarcoma. Arch Clin Exp Ophthalmol 1999;237:266-72.  Back to cited text no. 5
    
6.
Ajaiyoba IA, Pindiga UH, Akang EE. Tumour of the eye and orbit in Ibadan. East Afri Med J 1992;69:487-9.  Back to cited text no. 6
    
7.
Abrahams IW, Fenton RH, Vidone R. Alveolar soft part sarcoma of the orbit. Arch Ophthalmol 1968;79:185-8.  Back to cited text no. 7
    
8.
Morris WR, Padgett D, Osborn FD, Fleming JC. Pathologic quiz case: an orbital mass in a 45-year-old woman. Arch Pathol Lab Med 2005;129:234-6.  Back to cited text no. 8
    
9.
Grant GD, Shields JA, Flanagan JC, Horowitz P. The ultrasonographic and radiologic features of a histologically proven case of alveolar soft part sarcoma of the orbit. Am J Ophthalmol 1979;87:773-7.  Back to cited text no. 9
    
10.
Font RL, Jurco III S, Zimmerman LE. Alveolar soft part sarcoma of the orbit: a clinicopathologic analysis of seventeen cases and a review of the literature. Hum Pathol 1982;13:569-79.  Back to cited text no. 10
    
11.
Kim HJ, Wojno T, Grossniklaus HE, Shehata BM. Alveolar soft part sarcoma of the orbit: a report of 2 cases with review of the literature. Ophthalmic Plast Reconstr Surg 2013;29:138-42.  Back to cited text no. 11
    
12.
Yang JC, Chang AE, Baker AR et al. Randomized prospective study of the benefit of adjunct radiation therapy in the treatment of soft tissue sarcomas of the extremity. J Clin Oncol 1998;16:197-203.  Back to cited text no. 12
    
13.
O’Sullivan B, Davis AM, Turcotte R et al. Preoperative versus postoperative radiotherapy in soft tissue sarcoma of the limbs: a randomized trial. Lancet 2002;359:2235-41.  Back to cited text no. 13
    
14.
Portera CA Jr, Ho V, Patel SR, Hunt KK, Feig BW, Respondek PM, Yasko AW, Benjamin RS, Pollock RE, Pisters PW. Alveolar soft part sarcoma: clinical course and patterns of metastasis in 70 patients treated at a single institution. Cancer 2001;91:585-91.  Back to cited text no. 14
    
15.
Sherman N, Vavilala M, Pollock R, Romsdahl M, Jaffe N. Radiation therapy for alveolar soft part sarcoma. Med Pediatr Oncol 1994;22:380-3.  Back to cited text no. 15
    


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