|Year : 2018 | Volume
| Issue : 3 | Page : 276-278
Embryonal rhabdomyosarcoma of the orbit in a child
Aditya Pratap Singh, Arun Kumar Gupta, Vinay Mathur, Dinesh Kumar Barolia
Department of Pediatric Surgery, SMS Medical College, Jaipur, Rajasthan, India
|Date of Web Publication||29-Jun-2018|
Aditya Pratap Singh
Near the Mali Hostel, Main Bali Road, Falna, Dist-Pali, Rajasthan
Source of Support: None, Conflict of Interest: None
Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children and frequently involves the head and neck region with 10% of the cases primarily involving the orbit. It is a highly malignant tumor which can be life-threatening. It usually produces a precipitously progressing unilateral proptosis of sudden onset. Computed tomography and magnetic resonance imaging are important in the evaluation of this tumor. Histologically, embryonal subtype is most common in children. Complete resection followed by chemotherapy and radiotherapy is the preferred treatment of choice. We are reporting here a case of the embryonal RMS of orbit presenting with rapid proptosis of the right eye in a 14-month-old male child.
Keywords: Embryonal, orbit, proptosis, rhabdomyosarcoma
|How to cite this article:|
Singh AP, Gupta AK, Mathur V, Barolia DK. Embryonal rhabdomyosarcoma of the orbit in a child. Med J DY Patil Vidyapeeth 2018;11:276-8
| Introduction|| |
Orbital rhabdomyosarcoma (RMS) is the most common primary soft-tissue sarcoma in children. It accounts for 4% of all the childhood orbital malignancies. It is a highly malignant neoplasm of pluripotential embryonic mesoderm, which commonly differentiates to form cells similar to rhabdomyoblasts of the fetus. Due to the presence of elongated cells that contain abundance of eosinophilic glycogen rich cytoplasm, it is generally referred to as embryonal form of RMS. From the pathological point of view, several types have been described - embryonal sarcoma arising from the embryonic mesenchymal tissue either prospective muscle or undifferentiated tissue capable of heteroplastic differentiation into muscle, nonstriated embryonal RMS, and striated embryonal RMS.
| Case Report|| |
Parent of a 14-month-old male child presented to us with complaints of swelling over the right temporal region for the past 20 days [Figure 1]a. There was no history of trauma and chronic cough but had a history of fever. On local examination, swelling was nontender, approximately 4 cm × 3 cm in size, firm in consistency, and immobile. After admission, there was rapid onset of the right unilateral proptosis deviated downward and inward. Both the upper and lower eyelids were swollen, and bulbar conjunctiva was found to be chemosed. It was not associated with apparent diminution of vision. The prenatal and birth history of the child was uneventful. There was no lymphadenopathy. The left eye showed no significant abnormality on clinical examination.
|Figure 1 : (a) Preoperative photograph, (b) incisional biopsy photograph|
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Routine blood investigations including complete blood counts, renal function test, and liver function test were within normal limits. Ultrasonography (USG) of the swelling showed mixed echogenic lesion with involving the orbital wall while abdominal USG was normal. Contrast-enhanced computed tomography (CT) showed heterogenous lesion along the lateral and inferior wall of right orbit, extending in the right temporal region, and infratemporal fossa region [Figure 2]a and [Figure 2]b. It was involving the right zygomatic bone with erosion of lateral and inferior wall of the right orbit. It was involving the right lateral rectus muscle. Its fat planes with the right eyeball were obliterated. Incisional biopsy showed embryonal tumor [Figure 1]b. Immunohistochemistry report showed that cells were positive for glial fibrillary acidic protein, INI-1, myogenin, Myo D1, and CD99. It favored the diagnosis of embryonal RMS. We started chemotherapy including vincristine, doxorubicin, cyclophosphamide, and etoposide. Patient has been under follow-up for the past 2 months.
| Discussion|| |
RMS of the orbit is the most common orbital malignancy in childhood accounting for 10% of all RMS cases. The mean age is 6–8 years., Boys are affected more often than girls. However, the condition is also reported from birth to the eighth decade. The condition should be suspected in a child with rapidly evolving unilateral proptosis of sudden onset. Clinical presentation combined with characteristic imaging features of the disease aid in the diagnosis. Myogenin is a specific and sensitive marker in the diagnosis of RMS. However, in our case, the age of child was 14-month-old.
Although most often the tumors arise de novo, a history of trauma may be associated with the clinical presentation of this tumor  increased risk has been noted in children with rare inherited diseases such as Li Fraumeni syndrome, neurofibromatosis type II, and multiple endocrine neoplasia type 2A.
Patients with orbital RMS usually present with unilateral proptosis progressing rapidly within few days to weeks and/or globe displacement which is generally downward and outward because two-third of these tumors are superonasal. Although superonasal orbit is the most common location, RMS has also been reported as lid masses and as masses in other areas of orbit. In our case, the tumor was located in the right temporal region of the orbit.
In the study by Kaliaperumal et al., proptosis associated with signs of inflammation was noticed in a few cases. Hence, RMS mimicking as orbital cellulitis is an important consideration to be kept in mind. The rapid growth and aggressive nature of the tumor frequently result in involvement of adjacent orbital bone. Chemosis and edema of the lids with involvement of the wall of the orbit were noted in our patient also.
Intracranial extension may occur. Regional lymph node metastasis is uncommon. Hematogenous metastasis occurs to the lungs and bones. Metastatic RMS has an unfavorable prognosis. Both the CT and magnetic resonance imaging are useful diagnostic tools in determining the location and size and also in evaluating the residual or recurrent disease. On CT scan, the tumor appeared as a well-defined homogenous mass isodense to the extraocular muscles., Bone destruction is common.,
Histologically, two major subtypes of RMS may involve the orbit, the more common subtype is the embryonal type (89%). Alveolar RMS is the less common and more aggressive subtype., Histologically, embryonal RMS consists of primitive mesenchymal cells most of which are round to oval or sometimes spindle shaped dispersed in a myxoid background.
Immunohistochemistry markers which confirm the diagnosis include desmin (90%), myogenin, Myo D1, MSA, and myoglobin. Myogenin and Myo D1 are transcriptional regulatory factors expressed early in skeletal muscle differentiation, hence are more specific in diagnosing embryonal RMS. All pediatric RMSs show nuclear expression of myogenin. It was also showed in our case.
If a complete resection is possible, surgical removal of tumor with subsequent chemoradiation is suggested. As complete resection was not possible in our case, the patient received combined chemoradiation.
Factors positively influencing survival are younger age (<10 years), female sex, embryonal histology, and a more localized disease., Orbital RMS has a good prognosis because of the favorable anatomic location, favorable histology, and biology (80% embryonal).
| Conclusion|| |
RMS is the most common primary malignant orbital neoplasm in children. It should be suspected in a child presenting with rapidly progressing unilateral proptosis. It is a highly malignant and life-threatening tumor. Due to the multimodal therapy, RMS patients have a better prognosis than before. Hence, early diagnosis is crucial. The immunohistochemical staining of pediatric RMSs with antibodies to myogenin provides sensitive and specific diagnostic information. Orbital RMS has a good prognosis because of favorable anatomic location and favorable histology.
The author would like to thank Dr. Annu Bhandari, Radiologist, Senior Professor, SMS Medical College, Jaipur, Rajasthan, India.
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.
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Conflicts of interest
There are no conflicts of interest.
| References|| |
Xu F, De Las Casas LE, Dobbs LJ Jr. Primary meningeal rhabdomyosarcoma in a child with hypomelanosis of Ito. Arch Pathol Lab Med 2000;124:762-5.
Jurdy L, Merks JH, Pieters BR, Mourits MP, Kloos RJ, Strackee SD, et al.
Orbital rhabdomyosarcomas: A review. Saudi J Ophthalmol 2013;27:167-75.
Rao AA, Naheedy JH, Chen JY, Robbins SL, Ramkumar HL. A clinical update and radiologic review of pediatric orbital and ocular tumors. J Oncol 2013;2013:975908.
Maurya OP, Patel R, Thakur V, Singh R, Kumar M. Embryonal rhabdomyosarcoma of orbit – A case report. Indian J Ophthalmol 1990;38:202-4.
] [Full text]
Karcioglu ZA, Hadjistilianou D, Rozans M, DeFrancesco S. Orbital rhabdomyosarcoma. Cancer Control 2004;11:328-33.
Kaliaperumal S, Tiroumal S, Rao V. Orbital rhabdomyosarcoma: A case series. Indian J Cancer 2007;44:104-7.
] [Full text]
Chen SC, Bee YS, Lin MC, Sheu SJ. Extensive alveolar-type paranasal sinus and orbit rhabdomyosarcoma with intracranial invasion treated successfully. J Chin Med Assoc 2011;74:140-3.
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