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

Area of Science:

• Pediatric Oncology
• Ophthalmology
• Molecular Pathology

Background:

• Orbital rhabdomyosarcoma (RMS) is the most frequent primary malignant tumor affecting the eye socket in children.
• Embryonal subtype RMS generally has a favorable prognosis with timely diagnosis and management.
• Molecular advancements aid in distinguishing subtypes, like PAX3/7::FOXO1 fusion-positive alveolar RMS from fusion-negative embryonal RMS.

Purpose of the Study:

• To review current diagnostic and management strategies for orbital rhabdomyosarcoma (RMS) in children.
• To highlight the role of advanced imaging and molecular profiling in risk stratification.
• To discuss evolving treatment protocols, including novel radiotherapeutic approaches.

Main Methods:

• Review of current literature and clinical guidelines for orbital rhabdomyosarcoma.
• Emphasis on diagnostic modalities such as MRI for tumor extent assessment.
• Discussion of biopsy techniques, systemic chemotherapy, radiotherapy, and emerging treatments like brachytherapy.

Main Results:

• Prompt diagnosis and appropriate management, particularly for embryonal RMS, lead to favorable outcomes.
• Molecular profiling refines risk stratification, differentiating RMS subtypes.
• Novel radiotherapeutic approaches demonstrate high local control rates with reduced toxicity.

Conclusions:

• A multi-disciplinary approach is crucial for optimal diagnosis, staging, and treatment of orbital RMS.
• Reducing long-term morbidity and personalizing treatment based on molecular insights remain key challenges.
• Current recommendations emphasize risk-adapted protocols integrating chemotherapy and radiotherapy, with emerging benefits from advanced radiation techniques.