Chondrosarcoma Involving the Ciliary Body and Choroid

Area of Science:

• Ophthalmology
• Oncology
• Genetics

Background:

• Hereditary multiple exostoses (HME) is a genetic disorder predisposing individuals to bone tumors.
• Chondrosarcoma (CHS) is a common malignancy in HME patients, but ocular involvement is exceptionally rare.
• Ocular chondrosarcomas are typically considered metastases from skeletal primary tumors.

Purpose of the Study:

• To investigate the origin of an intraocular chondrosarcoma in a patient with a history of hereditary multiple exostoses.
• To differentiate between metastatic and primary intraocular chondrosarcoma in the context of HME.

Main Methods:

• Case report of a 56-year-old male with HME and prior chondrosarcomas.
• Diagnosis of an intraocular mass via visual field defect and imaging.
• Treatment with brachytherapy followed by enucleation for persistent growth.
• Histopathological examination of the enucleated eye.
• Radiographic evaluation for systemic metastases.

Main Results:

• A low-grade chondrosarcoma was identified in the ciliary body and choroid.
• The patient had no evidence of pulmonary or other systemic metastases at the time of ocular diagnosis.
• The intraocular chondrosarcoma's morphology resembled previously reported rare mammalian ocular chondromas.
• The tumor's appearance and lack of systemic spread challenged the metastatic hypothesis.

Conclusions:

• The intraocular chondrosarcoma in this HME patient likely arose de novo.
• This suggests a primary neoplastic process originating from chondrogenic differentiation of uveal mesenchymal stromal cells.
• This case expands the understanding of chondrosarcoma presentation in hereditary multiple exostoses.