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

ZY Musa; BH Askira; AB Zarami; UH Pindiga

doi:10.4103/njo.njo_24_20

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

ZY Musa¹, BH Askira¹, AB Zarami², UH Pindiga²
¹ Department of Ophthalmology, University of Maiduguri Teaching Hospital, Maiduguri, Nigeria
² Department of Human Pathology, University of Maiduguri, Nigeria

Date of Submission	07-Jun-2020
Date of Decision	01-Feb-2021
Date of Acceptance	18-Mar-2021
Date of Web Publication	16-Jul-2021

Correspondence Address:
Z Y Musa
Department of Ophthalmology, University of Maiduguri Teaching Hospital, Maidugur
Nigeria

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/njo.njo_24_20

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 2023 Jun 5];29:62-4. Available from: http://www.nigerianjournalofophthalmology.com/text.asp?2021/29/1/62/321640

Introduction

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

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

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

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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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