Rhabdomyosarcoma

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This blog is for informational purposes only and should not be taken as medical advice. Content is sourced from third parties, and we do not guarantee accuracy or accept any liability for its use. Always consult a qualified healthcare professional for medical guidance.

What is Rhabdomyosarcoma?

Rhabdomyosarcoma (RMS) is a rare soft tissue sarcoma from skeletal muscle precursors, primarily in children (60% under 10), with subtypes embryonal (60%, favorable), alveolar (30%, aggressive), and pleomorphic (adult). Sites include head/neck (35%), genitourinary (25%), extremities (20%). In 2025, ~500 US cases annually, more in boys.

Symptoms

Symptoms include swelling/lump, pain, bleeding (e.g., vaginal/nasal), urinary/bowel obstruction, eye bulging (orbital), or headache (CNS). Advanced causes fatigue, weight loss, or metastases symptoms (lung cough).

Causes

Causes involve genetic mutations (PAX3/7-FOXO1 fusion in alveolar, 80% aggressive; RAS in embryonal). Risks include age (<10), male gender, and syndromes (Li-Fraumeni, Beckwith-Wiedemann). No strong environmental links. In 2025, fusion genes drive classification.

Diagnosis

Diagnosis uses imaging (MRI, CT, PET), biopsy with immunohistochemistry (desmin, myogenin positive), and molecular testing for fusions. Bone marrow/staging assesses spread. In 2025, NGS improves subtype identification.

Treatment

Treatment is multimodal: surgery for resection, chemotherapy (vincristine, actinomycin-D, cyclophosphamide), radiation. Targeted therapies (e.g., IGF1R inhibitors) for fusions. In 2025, CAR-T trials show response in relapsed.

Future Outlook

In 2025, 5-year survival is 70% overall, 80% embryonal, 50% alveolar. Advances like fusion-targeted drugs improve to 75%. By 2030, immunotherapy could achieve 85%, focusing on pediatric cures.

Sources

The information for rhabdomyosarcoma is sourced from NCI’s “Rhabdomyosarcoma Treatment” for overview; Mayo Clinic’s “Rhabdomyosarcoma – Symptoms and causes” for symptoms; PMC’s “Rhabdomyosarcoma: Advances in 2025” for updates; Healthline’s “Rhabdomyosarcoma: Symptoms, Causes, Diagnosis” for diagnosis; Cleveland Clinic’s “Rhabdomyosarcoma” for treatment.