Rare Primary Intraocular Rhabdomyosarcoma with Metastases – A Case Report
Author: Pinmada Makornwattana
Base Hospital / Institution: University of California, Berkeley
ePoster presentation
Abstract ID: 25-102
Purpose
Rhabdomyosarcoma is the most common soft tissue sarcoma seen in children, with approximately 10% of cases presenting as a primary malignancy of the orbit. It is the most common primary orbital malignancy in children, typically presenting between ages 5 and 7. The disease manifests as a rapidly growing, painless orbital mass that may cause proptosis, eyelid swelling, and restricted extraocular motility. In exceedingly rare cases, it can present intraocularly. This case report aims to highlight a rare instance of intraocular RMS, initially diagnosed as either medulloepithelioma or rhabdomyosarcoma, which later metastasized despite enucleation with negative margins.
Methods
A comprehensive review of the patient’s clinical presentation, imaging, surgical pathology, histopathological findings, and genetic testing was performed. In this case, rhabdomyosarcomatous differentiation of a teratoid medulloepithelioma was suspected. Management of documented intraocular rhabdomyosarcomas typically involves a combination of enucleation, systemic chemotherapy, and/or radiation therapy – a similar course of treatment to the one performed for this case.
Results
Previously reported cases have shown mostly favorable outcomes with no recurrence or metastasis. But, later diagnosed as rhabdomyosarcoma since the tumor metastasized despite enucleation with negative margins.
Conclusion
This case represents one of only six reported cases of intraocular rhabdomyosarcoma. Additionally, this case depicts the potential for metastatic spread despite negative surgical margins, reinforcing the necessity of systemic treatment post-enucleation in select cases.
Additional Authors
| First name | Last name | Base Hospital / Institution |
|---|---|---|
| Cassie | Huang | University of Illinois Chicago |
| Sasha | Hubschman | University of Illinois Chicago |
| Ann | Tran | University of Illinois Chicago |
