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Metastatic Embryonal Conjunctival Rhabdomyosarcoma in a 4-Year-Old Boy
Almila Sarigül Sezenöz1, Aylin Karalezli, Yonca Özkan Arat
1*Department of Ophthalmology, Başkent University, Ankara, Turkey; †Department of Ophthalmology, Muğla Sitki Koçman University, Muğla, Turkey; ‡Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, U.S.A.; §Department of Radiology, Başkent University, Konya, Turkey; ‖Department of Ophthalmology, Hacettepe University, Ankara, Turkey; and ¶Department of Pathology, Başkent University, Ankara, Turkey.
Insights
A rare case of embryonal rhabdomyosarcoma in a child presented as a conjunctival mass. This pediatric cancer diagnosis requires prompt histopathology and systemic evaluation for effective treatment.
Area of Science:
- Ophthalmology
- Pediatric Oncology
- Pathology
Background:
- Conjunctival masses in children are uncommon, necessitating a broad differential diagnosis.
- Early detection and accurate diagnosis are crucial for managing pediatric ocular tumors.
Observation:
- A 4-year-old boy presented with a rapidly enlarging, salmon-colored mass on the left upper eyelid's palpebral conjunctiva.
- Initial MRI showed no orbital invasion, but biopsy confirmed embryonal rhabdomyosarcoma.
- Staging revealed metastatic disease (Stage 4) with lung nodules.
Findings:
- The case highlights a rare presentation of embryonal rhabdomyosarcoma primarily involving the conjunctiva with distant metastasis.
- Histopathological confirmation is essential for diagnosing this rare pediatric malignancy.
- The absence of orbital involvement despite metastasis is an unusual feature.
Implications:
- Conjunctival rhabdomyosarcoma should be considered in the differential diagnosis of atypical pediatric conjunctival lesions.
- Comprehensive systemic evaluation and vigilant follow-up are mandatory for affected children.
- Multimodal treatment including chemotherapy and radiation therapy is indicated for advanced disease.
Abstract:
The authors report the case of a 4-year-old boy who presented with unilateral ptosis and a mass lesion of palpebral conjunctiva of the left upper eyelid, that had been present for 2 weeks, and had rapidly enlarged. The lesion was salmon colored and was easily distinguished from the conjunctiva. There was no obvious orbital extension in the MRI studies. Excisional biopsy was performed through a conjunctival approach. The histopathology was consistent with embryonal rhabdomyosarcoma. Thoracoabdominal CT scans revealed nodules in both lungs, indicating stage 4 disease. The patient received chemotheraphy and intensity-modulated radiation therapy. Rhabdomyosarcoma confined to the conjunctiva and distant metastasis without orbital involvement is rare. It should be included in the differential diagnosis of any atypical conjunctival mass lesions in children, and histopathology is necessary to establish proper treatment. As the case indicates, detailed systemic evaluation and careful systemic follow up of these patients are mandatory.
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