Orbital Rhabdomyosarcoma: A Comprehensive Review of Clinical Features, Molecular Advances and Current Management

Abstract

Orbital rhabdomyosarcoma (RMS) is the most common primary orbital malignant tumour in children. The majority of cases are of the embryonal subtype, which carries a favourable prognosis when promptly diagnosed and appropriately managed. Advances in molecular profiling have further refined risk stratification, distinguishing PAX3/7::FOXO1 fusion-negative embryonal from fusion-positive alveolar RMS. Imaging, particularly MRI, plays a central role in diagnosis and tumour extent. Current biopsy recommendations favour open incisional procedures for orbital RMS. Treatment follows risk-adapted protocols incorporating systemic chemotherapy with radiotherapy for local control. Emerging studies show the benefit of novel radiotherapeutic approaches that have high control rates but lower toxicity, including brachytherapy in the AMORE protocol. Despite overall excellent survival rates, challenges remain in reducing long-term morbidity and personalising treatment through genetic and molecular knowledge. This review offers current recommendations and highlights the importance of a multi-disciplinary approach in the diagnosis, staging and treatment of orbital RMS.