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 Table of Contents  
CASE REPORT
Year : 2021  |  Volume : 33  |  Issue : 1  |  Page : 71-74

Orbital rhabdomyosarcoma: An atypical presentation


1 Department of Ophthalmology, St. John's Medical College, Bengaluru, Karnataka, India
2 Department of Paediatrics , Division of Paediatric Oncology, St. John's Medical College, Bengaluru, Karnataka, India

Date of Submission11-May-2020
Date of Decision22-Jul-2020
Date of Acceptance24-Jul-2020
Date of Web Publication19-Apr-2021

Correspondence Address:
Dr. Shubashree Karat
Department of Ophthalmology, St. John's Medical College, Sarjapur Road, Bengaluru - 560 034, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/kjo.kjo_55_20

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  Abstract 


Orbital Rhabdomyosarcoma is a lethal malignancy of childhood. It commonly presents in the first decade of life as a rapidly progressive proptosis that can mimic orbital inflammatory disorders. We present a case of a 13-year-old boy who presented with a diffuse right upper lid swelling progressing over 10 days. The detailed evaluation revealed an immobile, firm, and eyelid mass adhering to underlying tissues, not adherent to the skin. The provisional diagnosis of an orbital inflammation was performed. Neuroimaging suggested a preseptal cystic lesion. Intraoperatively, a solid bosselated mass arising from orbicularis oculi, extending into the anterior orbit was excised in toto. Histopathology revealed Stage-1 embryonal rhabdomyosarcoma, confirmed on immunohistochemistry. Postoperatively, the patient underwent systemic chemotherapy. The patient was tumor-free at 2 years follow-up.

Keywords: Embryonal rhabdomyosarcoma, immunohistochemistry, lid swelling, orbital rhabdomyosarcoma


How to cite this article:
Nithyanandam S, Bharadwaj V, Karat S, Janardhanan A, Punnoliparambil LA. Orbital rhabdomyosarcoma: An atypical presentation. Kerala J Ophthalmol 2021;33:71-4

How to cite this URL:
Nithyanandam S, Bharadwaj V, Karat S, Janardhanan A, Punnoliparambil LA. Orbital rhabdomyosarcoma: An atypical presentation. Kerala J Ophthalmol [serial online] 2021 [cited 2021 Jun 18];33:71-4. Available from: http://www.kjophthal.com/text.asp?2021/33/1/71/314100




  Introduction Top


Rhabdomyosarcoma continues to be the most common orbital malignancy in children with a peak incidence between 5 and 10 years.[1],[2] It characteristically presents as an unilateral painless proptosis which rapidly progresses to involve conjunctiva, eyelids and can cause secondary changes such as edema and erythema of the lids, conjunctival chemosis, exposure keratopathy, dilated episcleral vessels, retinal detachment, choroidal folds, disc edema, and ultimately causing vision loss.[2],[3] It commonly causes abaxial proptosis (80%–100%) with inferonasal globe displacement (80%).[2],[4],[5]

When the diagnosis is delayed, the 5-year survival rate decreases. However, advancements in chemotherapy have improved prognosis drastically. This has improved the survival rate from 25% to 94% for orbital embryonal rhabdomyosarcomas.[6],[7] Meticulous examination, accurate clinical staging, and appropriate protocol based management have improved the outcome of childhood rhabdomyosarcoma.[1],[4]

We present a case of embryonal rhabdomyosarcoma in a 13-year-old boy presenting as an acute onset upper eyelid mass.


  Case Report Top


A 13-year-old boy observed a peanut-sized swelling over his right upper eyelid that progressed over 10 days to involve his entire upper eyelid, causing complete drooping of that eyelid. It was not associated with pain, congestion, or proptosis.

On examination, he had a chin lift but was orthophoric. His best-corrected visual acuity was 20/20 in both eyes (OU) with normal color vision. There was diffuse swelling of the right upper eyelid causing complete mechanical ptosis. A diffuse, ill-defined, firm mass was palpable separate from the overlying skin. It was extending into the orbit superiorly making finger insinuation difficult. The ocular motility of the right eye was limited in upgaze. The anterior segment and fundus evaluation were normal.

The other eye examination was normal. He had mild enlargement of bilateral submandibular and contralateral post auricular lymph nodes. The systemic examination was normal.

Computerized tomography scan of the orbit and brain revealed a well-defined hypodense lesion in the preseptal region with post septal extension into the superior orbit, molding around the eyeball [Figure 1]. Ultrasonography of the neck revealed right-sided subcentimetric lymphadenopathy of Level I and Level II neck lymph nodes.
Figure 1: Computed tomography scan of the brain and orbit: (a) Sagittal section (b) Coronal section and (c) Axial section showing hypodense lesion predominantly of the upper eyelid with postseptal extension into the superior orbit, lesion molding along the contour of the globe

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Using a subbrow approach anterior orbitotomy was performed. After meticulous dissection, the mass was excised in toto. Intraoperatively, it was found to be adherent to both orbicularis oculi and levator palpebrae superioris with minimal extension into the orbit. On gross examination, the mass was solid, bosselated measuring about 33 mm × 27 mm × 24 mm [Figure 2].
Figure 2: Intraoperatively (a) Mass excised in toto. (b) The dimension of the mass. Clinical picture (c) Immediate postoperative image and (d) One-year follow-up after adjuvant chemotherapy with no signs of local recurrence

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Histopathology revealed sheets of atypical round to oval cells with a moderate amount of cytoplasm, hyperchromatic nuclei, and a few atypical mitotic figures. Myxoid stroma with few muscle fibers was noted on H and E staining. On immunohistochemistry, the neoplastic cells were positive for cytokeratin, desmin, myogenin, CD 99 and S100, and negative for leukocyte common antigen. It was confirmed as embryonal rhabdomyosarcoma [Figure 3].
Figure 3: Histopathology (a) H and E Staining showing sheets of atypical round to oval cells with hyperchromatic nuclei and atypical mitotic figures in the myxoid stroma with few muscle fibers. (b) Immunohistochemistry showing CD99 positive staining (c) Immunohistochemistry showing desmin positive staining

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The patient had a Group 1, Stage I of orbital rhabdomyosarcoma, and received 12 cycles of adjuvant chemotherapy with vincristine, actinomycin, and cyclophosphamide according to the Children's Oncology Group Protocol (ARST0331) under clinical Group 1. He tolerated the chemotherapy well with minimal systemic toxicity. There has been no recurrence at 24 months of follow-up.


  Discussion Top


Rhabdomyosarcoma develops from pluripotent mesenchymal elements, with 45% from the head-and-neck region, 40% from the trunk, 15% from extremities, and up to 10% originating from the orbit.[1],[2],[4] It is the most common childhood primary orbital malignancy, commonly occupying the extraconal space (40%–80%).[4],[5] Almost all cases have proptosis, but our patient had a lid mass. In literature, there are few reports of rhabdomyosarcoma presenting as a lid mass, given in [Table 1].[5],[6],[7],[8],[9],[10],[11],[12] Rhabdomyosarcoma is known to occur with familial syndromes, thereby suggesting a genetic contribution.[4]
Table 1: Lid as a presenting site for rhabdomyosarcoma

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The mean age of presentation is 8 years.[3] The age of presentation of predominantly lid lesions parallels those of orbital lesions.[5],[6],[7],[8] Oldest reported case of rhabdomyosarcoma of the orbit 78 years of age.[3] However, in very young children, these eyelid tumors were wrongly diagnosed as vascular malformations leading to delayed diagnosis and poorer outcomes.[6],[7],[8] Factors such as early diagnosis and treatment, pleomorphic cell types, and younger age positively influenced outcomes even in eyelid tumors like their orbital counterparts.[6],[7],[8]

The five major histopathological variants are as follows embryonal, alveolar, botryoid embryonal, spindle cell embryonal, and anaplastic.[2],[3] Favorable prognosis is seen with pleomorphic type attributed to its well-differentiated nature followed by embryonal type, with alveolar histotype holding the worst prognosis.[4] Our patient had an embryonal histotype.

Recommended immunohistochemical panels for rhabdomyosarcoma are desmin, myogenin, myoglobin, and muscle-specific actin. Desmin and vimentin can be indicative but not specific to rhabdomyosarcoma. Alveolar type predominantly express myogenin (90%).[4],[13] Immunohistochemistry in our case showed cytokeratin, desmin, and myogenin positivity.

The North American Intergroup Rhabdomyosarcoma Study Group (IRSG) staged orbital rhabdomyosarcoma.[14] This classification guides the management, grouping, and prognosis of the tumor.[2],[4],[14] Management guidelines are provided by (IRSG) and by the International Society of Pediatric Oncology Malignant Mesenchymal Tumor as given in [Table 2]. Our patient had a localized disease that was completely resected.
Table 2: Staging and management guidelines according to the North American Intergroup Rhabdomyosarcoma Study Group

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Management guidelines are provided by (IRSG) and by the International Society of Pediatric Oncology Malignant Mesenchymal Tumor. A combined multimodal approach is applied for the treatment of rhabdomyosarcoma, including surgery, radiotherapy, and stage-based chemotherapy.[1],[2],[4],[6] Radiation is provided in the range of 3600–5040 cGy over 4–5 weeks.[2],[4],[14]

The favorable prognostic factors include completely resected tumor with tumor-free margin, pleomorphic histology, orbital origin, and tumor size <5 cm.[1],[2],[3] About 17% can recur at a median duration of 18 months, of which 8% can occur at a distant site and local recurrence in 92%.[2],[4],[14] The 5-year survival of those with orbital alveolar rhabdomyosarcoma was 74%.[3] and that of embryonal rhabdomyosarcoma was 94%. As per the literature, our patient has a good chance of 5 years of survival due to early diagnosis and management.

In conclusion, the eyelid rhabdomyosarcoma is rare. It can clinically mimick either eyelid or orbital inflammatory swelling. Early diagnosis and protocol-based management improve the prognosis in rhabdomyosarcoma.

Acknowledgment

We would like to thank the Department of Hematology-Oncology, St. John's Medical College, Bangalore, Department of Pathology, St. John's Medical College, Bengaluru.

Declaration of patient consent

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

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Turner JH, Richmond JD. Head and neck rhabdomyosarcoma: A critical analysis of population-based incidence and survival data. Otolaryngol Head and Neck Surg 2011;145:967-73.  Back to cited text no. 1
    
2.
Shields JA, Shields CL. Rhabdomyosarcoma: Review for the ophthalmologist. Surv Ophthalmol 2003;48:39-57.  Back to cited text no. 2
    
3.
Shields CL, Shields JA, Honavar SG, Demirci H. Clinical spectrum of primary ophthalmic rhabdomyosarcoma. Ophthalmology 2001;108:2284-92.  Back to cited text no. 3
    
4.
Jurdy L, Merks JH, Pieters BR, Mourits MP, Kloos RJ, Strackee SD, et al. Orbital Rhabdomyosarcoma: A review. Saudi J Ophthalmol 2013;27:167-75.  Back to cited text no. 4
    
5.
Kaliaperumal S, Tiroumal S, Rao V. Orbital rhabdomyosarcoma: A case series. Indian J Cancer 2007;44:104-7.  Back to cited text no. 5
[PUBMED]  [Full text]  
6.
Schuster SA, Ferguson FC, Marshall RB. Alveolar rhabdomyosarcoma of the eyelid: Diagnosis by electron microscopy. Arch Ophthalmol 1972;87:646-51.  Back to cited text no. 6
    
7.
Essafi H, Hajji T, Aboutoufail S, Ahammou H, Soltani L, Moutaouakil A. A rare location of palpebral rhabdomyosarcoma. Lancet Oncol 2018;19:e65.  Back to cited text no. 7
    
8.
Calhoun SP Jr., Reese JB. Rhabdomyosarcoma of the orbit. Arch Ophthal 1942;27:558-78.  Back to cited text no. 8
    
9.
Jones IS, Reese AB, Krout J. Orbital rhabdomyosarcoma: An analysis of sixty-two cases. Trans Am Ophthalmol Soc 1965;63:224-32.  Back to cited text no. 9
    
10.
Ashton N, Morgan G. Embryonal sarcoma and embryonal rhabdomyosarcoma of the orbit. J Clin Pathol 1965;18:699-714.  Back to cited text no. 10
    
11.
Sharifi M. Embryonal rhabdomyosarcoma of upper lid in 15-year-old patient. Case Rep Ophthalmol Med. doi.org/10.1155/2014/157053.  Back to cited text no. 11
    
12.
Lee YC, Hsu YH, Yang SH, Huang TL. Congenital eyelid rhabdomyosarcoma. Ophthalmic Plast Reconstr Surg 2016;32:e104-6.  Back to cited text no. 12
    
13.
Constine LS, Marcus RB Jr., Halperin EC. The future of therapy for childhood rhabdomyosarcoma: Clues from molecular biology. Int J Radiat Oncol Biol Phys 1995;32:1245-9.  Back to cited text no. 13
    
14.
Raney RB, Maurer HM, Anderson JR, Andrassy RJ, Donaldson SS, Qualman SJ, et al. The Intergroup Rhabdomyosarcoma Study Group (IRSG): Major lessons from the IRS-I through IRS-IV studies as background for the current IRS-V treatment protocols. Sarcoma 2001;5:9-15.  Back to cited text no. 14
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]
 
 
    Tables

  [Table 1], [Table 2]



 

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