Rhabdomyosarcoma

Rhabdomyosarcoma is not classified as a primary ocular cancer, but it can affect the eye indirectly by involving the orbit - the tissues surrounding the eyeball. It is the most common primary orbital malignancy in children, but the tumor itself arises from skeletal muscle cells, not from the eyeball or ocular structures.

Rhabdomyosarcoma is a rare and aggressive malignant tumor that arises from immature skeletal muscle cells and is the most common soft tissue sarcoma in children. When it occurs in the eye region, it typically affects the orbit (the bony cavity housing the eye), leading to swelling, bulging of the eye (proptosis), and sometimes impaired eye movement or vision.

The tumor grows rapidly and can invade surrounding tissues, making early diagnosis crucial. Symptoms often include a noticeable mass, eye displacement, or pain. Diagnosis involves imaging studies such as MRI or CT scans, and biopsy for histopathological confirmation.

Treatment usually requires a combination of surgery, chemotherapy, and radiation therapy tailored to the tumor’s size, location, and stage.

Prognosis depends on early detection and effective treatment, with improved survival rates seen in recent decades due to advances in multimodal therapy.

🧿 Rhabdomyosarcoma (RMS) Fact Sheet

Cancer Type: Rare Soft Tissue Sarcoma
Common Ocular Site: Orbit (space around the eye)
Most Affected Group: Children under 10
Website Reference: OcularCancer.com

🔍 What is Rhabdomyosarcoma?

Rhabdomyosarcoma (RMS) is a rare and aggressive cancer that forms in skeletal muscle cells that have not yet fully developed. It is the most common soft tissue sarcoma in children and can occur anywhere in the body. When it develops in the orbit, it is known as orbital rhabdomyosarcoma, and is considered a pediatric ocular cancer emergency due to its rapid growth.

📊 Key Facts:

Most common soft tissue cancer in children
Accounts for ~4–8% of all childhood cancers
Peak onset age: 1 to 5 years old
Gender: Slight male predominance
Orbital RMS: ~10% of all rhabdomyosarcoma cases
Laterality: Usually unilateral (one eye)

🧬 Causes & Risk Factors:

Mostly sporadic (no known cause in most cases)
Genetic syndromes associated with higher risk:
- Li-Fraumeni syndrome
- Neurofibromatosis type 1 (NF1)
- Beckwith-Wiedemann syndrome
Chromosomal abnormalities: PAX3/7-FOXO1 fusion genes (seen in alveolar subtype)

🧁 Types of Rhabdomyosarcoma:

Embryonal (ERMS) – Most common type (especially in the orbit)
- Better prognosis
- Seen in younger children
Alveolar (ARMS) – More aggressive
- Often in older children/teens
- Less common in orbital RMS
Pleomorphic RMS – Rare, typically in adults

👁️ Orbital RMS: Signs and Symptoms

Rapid-onset bulging of one eye (proptosis)
Swelling or redness around the eye
Drooping eyelid (ptosis)
Eye pain or discomfort
Impaired eye movement or double vision
Vision changes or loss (in advanced cases)

🩺 Diagnosis:

Urgent referral to ocular oncologist or pediatric oncologist
Imaging:
- MRI of the orbit and brain
- CT scan to evaluate bone involvement
Biopsy: Required for definitive diagnosis and subtype classification
Bone marrow biopsy and lumbar puncture may be needed to rule out metastasis
Staging: Based on tumor size, location, lymph node involvement, and distant spread

🧪 Treatment Options:

Multimodal therapy is standard:
- Chemotherapy: Primary treatment (e.g., VAC – Vincristine, Actinomycin-D, Cyclophosphamide)
- Radiation therapy: Often used to preserve eye and vision, especially in orbital RMS
- Surgery: Sometimes performed for biopsy or resection, but often avoided in orbital cases to preserve function

🎯 Prognosis:

Orbital RMS has a favorable prognosis with prompt treatment
5-year survival rate: ~85–90% for orbital embryonal RMS
Prognosis depends on:
- Subtype (embryonal > alveolar)
- Stage at diagnosis
- Tumor location and size
- Response to therapy

🔄 Follow-Up & Monitoring:

Frequent imaging and eye exams post-treatment
Monitor for recurrence, side effects, and secondary cancers
Long-term care may include:
- Visual rehabilitation
- Cosmetic or reconstructive surgery (if necessary)
- Supportive care for growth or cognitive development

❤️ Support & Resources:

Pediatric oncology and ocular oncology teams
Genetic counseling for high-risk families
Psychosocial and mental health support
Childhood cancer survivor groups
Vision support programs and special education services

📌 Key Takeaways:

Rhabdomyosarcoma is rare but highly treatable, especially in the orbit.
Early diagnosis is critical - rapid eye bulging in a child is a red flag.
Treatment requires a team approach: oncology, ophthalmology, radiation, and support services.
Survivorship care is essential due to long-term effects of treatment.

📚 Learn more and connect with others at:
🌐 OcularCancer.com – Your resource for rare eye cancers, survivor stories, treatment guidance, and community.