Rhabdomyosarcoma

Rhabdomyosarcoma (RMS) is a cancer that starts in cells that would normally develop into skeletal muscle. It is the most common soft-tissue sarcoma in children.

About rhabdomyosarcoma

What is rhabdomyosarcoma?

RMS can occur almost anywhere in the body. Common sites are the head and neck (including around the eye), the bladder and genital area, and the arms and legs.

What are the risk factors?

• Most cases have no known cause
• Some inherited conditions raise the risk — Li-Fraumeni syndrome, neurofibromatosis type 1, Costello and Beckwith–Wiedemann syndromes
• It is most common in children under 10

What are the symptoms?

• A lump or swelling that grows over time, sometimes painful
• Bulging of the eye or swelling of the eyelid (tumors near the eye)
• Nasal blockage, bleeding or ear discharge (head and neck tumors)
• Blood in the urine or difficulty passing urine (bladder or prostate tumors)

How many types are there?

• Embryonal RMS — the most common type, usually in younger children, with a more favourable outlook
• Alveolar RMS — more common in teenagers and on the arms and legs; often carries a PAX3/PAX7-FOXO1 fusion and needs more intensive treatment
• Spindle cell / sclerosing and pleomorphic RMS — rarer types

Tests confirm the diagnosis, identify the subtype and find out whether the tumor has spread.

Blood tests

Blood count, kidney and liver function before treatment.

CT scan

Of the chest to look for lung spread, and of the tumor area.

MRI scan

Gives detailed images of the tumor and nearby structures.

Ultrasound

Useful for tumors in the abdomen, pelvis and lymph nodes.

PET-CT

Checks for spread elsewhere in the body.

Biopsy

Confirms RMS and its subtype; genetic testing looks for the FOXO1 fusion.

Bone marrow aspiration and biopsy

Checks whether cancer cells have reached the marrow. Lymph-node sampling and lumbar puncture are performed for certain tumor sites.

All children with rhabdomyosarcoma receive chemotherapy, combined with surgery and/or radiation to control the primary tumor.

Surgery

Removes the tumor when this can be done without major loss of function or appearance.

Chemotherapy

Combinations such as vincristine, actinomycin-D, cyclophosphamide or ifosfamide are given over several months; maintenance chemotherapy may follow.

Radiation therapy

Precise techniques — including intensity-modulated or proton therapy where available — treat the tumor while sparing healthy tissue.

Targeted therapy

New targeted drugs are being studied, mainly for relapsed disease.

Bone marrow / stem cell transplant

Used only in selected cases within clinical studies.

Holistic care

Rehabilitation, nutrition, psychological support and long-term follow-up for late effects.

Our pediatric sarcoma specialists coordinate surgery, chemotherapy and radiation for each child.