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Rhabdomyosarcoma

Malignant Tumor of Skeletal Muscle Differentiation

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Onkoloji department. Book Appointment →

What is Rhabdomyosarcoma?

Rhabdomyosarcoma (RMS) is a malignant mesenchymal tumor recapitulating skeletal muscle development, accounting for 50% of soft tissue sarcomas in children but only 3% in adults.

Major histologic subtypes include embryonal (60-70%, often head/neck or genitourinary, favorable), alveolar (20%, FOXO1 fusions, aggressive), pleomorphic (adult, very aggressive), and spindle cell/sclerosing (variable prognosis).

Molecular hallmark of alveolar RMS: PAX3-FOXO1 or PAX7-FOXO1 fusion, used for both diagnosis and risk stratification.

Symptoms

Painless mass in head and neck, genitourinary tract, or extremity
Head/neck: orbital proptosis, nasal/sinus obstruction, parameningeal extension with cranial nerve deficits
Genitourinary: hematuria, urinary retention, vaginal bleeding (sarcoma botryoides)
Extremity: deep firm mass, often associated with local invasion
Symptoms of metastasis: bone pain, dyspnea (lung), anemia (marrow involvement)
Constitutional symptoms in advanced disease: weight loss, fever, fatigue

Risk Factors

Pediatric age 0-19 years (peak under 10)
Hereditary syndromes: Li-Fraumeni (TP53), neurofibromatosis type 1, Costello syndrome, DICER1 syndrome, Beckwith-Wiedemann, Rubinstein-Taybi
Maternal cocaine or marijuana use during pregnancy (associations reported)
Prior radiation exposure
Male predominance (slight)
No clear environmental causes for most sporadic cases

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Any new firm mass in a child or adolescent — urgent biopsy required
  • Persistent orbital swelling, proptosis, or bloody nasal discharge
  • Hematuria or vaginal mass in a child
  • Cranial nerve deficits or new neurologic findings
  • Systemic symptoms (fever, weight loss, bone pain) in young patient
  • Family history of Li-Fraumeni or other cancer syndromes

Treatment Methods

01
Multimodal therapy: combination of surgery, chemotherapy, and radiation
02
Chemotherapy backbone: vincristine, actinomycin D, cyclophosphamide (VAC) — Children's Oncology Group standard
03
Risk-based intensification: addition of irinotecan, cyclophosphamide intensification, or temozolomide
04
Surgery: local control with margin-negative resection when feasible
05
Radiation therapy: integrated for residual disease, parameningeal location, or unfavorable sites
06
Targeted therapy emerging: vinorelbine maintenance, immune checkpoint inhibitors in trials
07
Treatment for adult RMS: anthracycline plus ifosfamide-based regimens
08
Long-term survivorship monitoring for late effects, secondary malignancies, growth/fertility

Which Department to Visit?

You can visit our Onkoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.