Orbital alveolar rhabdomyosarcoma with central nervous system invasion in adult: A case report

Background: Rhabdomyosarcoma (RMS) is a malignant tumor originating from mesenchymal cells destined for skeletal muscle differentiation and is commonly recognized as a pediatric disease, accounting for <1% of malignant solid tumors in adults. As its clinical presentation depends on anatomical location, orbital tumors commonly present with proptosis and eyelid changes, while contiguous invasion of the central nervous system (CNS) is exceedingly uncommon. Regarding prognosis, the alveolar subtype generally results in poorer outcomes, especially in the adult population. Case Description: A 34-year-old man presented with a 3-month history of progressive left supraorbital protuberance, associated with proptosis, and no other neurological impairment. Imaging studies identified an infiltrative orbital lesion with soft tissue attenuation, eroding the cranial vault and extending into the frontal lobe, accompanied by vasogenic edema. Surgical resection was performed through a left frontal craniotomy. Anatomopathological and immunohistochemical studies confirmed alveolar RMS, presumably derived from extraocular muscles. Positron emission tomography-computed tomography revealed metastatic spread to mediastinal lymph nodes and bone marrow, whose biopsy demonstrated positivity for the PAX3–FOXO1 rearrangement. The patient received adjuvant radiotherapy and chemotherapy with irinotecan, vincristine, actinomycin D, ifosfamide, cyclophosphamide, and vinorelbine. Fifteen months after completing the maintenance phase, the patient shows no evidence of disease. Conclusion: Adult orbital alveolar RMS with CNS invasion is a rare and aggressive presentation that requires targeted and multimodal management. The lack of guidelines for the adult population implies the need to adapt therapeutic strategies from pediatric protocols. Comprehensive diagnosis integrating imaging, histopathology, and molecular testing is essential for accurate classification and treatment planning.