Congenital mesenchymal chondrosarcoma of the orbit: case report and review of the literature

PURPOSE: To report the first case of congenital extraskeletal mesenchymal chondrosarcoma arising in the orbit. DESIGN: Interventional case report and review of the literature. METHODS: Ophthalmologic examination and computed tomography scan of the orbit were performed. Histologic and histochemical examination and immunohistochemistry of the biopsy specimen were evaluated. MAIN OUTCOME MEASURES: Ocular and systemic disease control. RESULTS: A 5-month-old girl was seen with a papillomatous lesion in the right lower tarsal conjunctiva present from birth. Histologic examination demonstrated an admixture of undifferentiated mesenchymal cells and islands of mature hyaline cartilage, and immunohistochemistry studies revealing positivity for vimentin and S-100 were consistent with the diagnosis of mesenchymal chondrosarcoma. The patient was treated with combined chemotherapy (ifosfamide, epirubicin, and cisplatin), radiotherapy, and surgery (exenteration). She is alive with no evidence of disease after 4 years of follow-up. Facial asymmetry and dental malformations have developed as late effects. Further reconstructive surgery is planned for the malformations. CONCLUSIONS: Extraskeletal mesenchymal chondrosarcoma in the orbit is extremely rare. This study reports the first case of congenital extraskeletal mesenchymal chondrosarcoma arising in the orbit (also the youngest patient) both in skeletal and extraskeletal sites. Multimodality treatment (surgery, chemotherapy, and radiotherapy) may lead to long-term survival.