On this page
Referral and warning signs
When to refer
Immediate referral to specialized Paediatric Oncology centre for ALL suspected cases.
Red flags
- Unexplained mass in a child/adolescent
- Proptosis
- Haematuria or urinary obstruction in a child
- Vaginal mass/bleeding in young girl
- Painless scrotal mass (paratesticular)
Signs and symptoms
- Painless or painful mass/swelling, depending on location.
- Symptoms depend on primary site: Head/Neck (Orbital proptosis, cranial nerve palsies, nasal obstruction/discharge, ear discharge, neck mass), Genitourinary (GU) (Bladder/Prostate - Haematuria, urinary obstruction, pelvic mass; Vagina/Uterus - Vaginal bleeding/discharge, protruding mass 'sarcoma botryoides'; Paratesticular - Scrotal or inguinal mass), Extremities (Palpable mass), Trunk/Retroperitoneum (Abdominal/back pain, mass).
- Symptoms of metastases (lung, bone marrow, lymph nodes).
Risk factors
- Most cases sporadic.
- Associated with certain genetic syndromes (e.g., Li-Fraumeni syndrome, Neurofibromatosis type 1, Beckwith-Wiedemann syndrome).
Diagnosis
Clinical assessment
Suspect with unexplained mass in child/adolescent, or symptoms related to specific sites (e.g., proptosis, GU obstruction, vaginal mass).
Investigations
- Imaging of Primary Site (Ultrasound, CT, MRI): Define tumour extent, relationship to adjacent structures.
- Biopsy (Incisional or Excisional if small): Essential for diagnosis. Histopathology identifies RMS and subtype (Embryonal vs Alveolar - alveolar has worse prognosis). Molecular testing (PAX-FOXO1 fusion status for alveolar RMS) important for risk stratification.
- Staging Investigations (Assess for metastases): Chest CT Scan, Bone Scan, Bone Marrow Aspiration and Biopsy, PET-CT scan (increasingly used), Regional Lymph Node assessment (imaging +/- biopsy).
Diagnostic criteria
Histopathological confirmation from tumour biopsy.
Management
Non-pharmacological management
- Referral to specialized Paediatric Oncology centre.
- Multimodal therapy involving surgery, chemotherapy, and radiotherapy.
- Surgery: Wide local excision of primary tumour where feasible (complete resection is important prognostic factor). May be done upfront or after chemotherapy.
- Radiotherapy: Used for local control, especially if residual disease after surgery or unresectable tumour.
Pharmacological treatment
- Chemotherapy: Essential component for all patients. Multi-agent regimens based on risk group (determined by stage, histology, location, resection status). Common drugs include Vincristine, Actinomycin D, Cyclophosphamide (VAC regimen), Ifosfamide, Etoposide, Doxorubicin.
Monitoring
Monitor treatment response (imaging). Monitor for treatment toxicity. Long-term follow-up for relapse and late effects (growth, fertility, secondary cancers).
Complications
- Local recurrence
- Metastatic disease
- Complications related to tumour location (e.g., obstruction, nerve palsies)
- Treatment-related toxicity (acute and long-term)
Prevention
- No known prevention.
Patient education
- (To parents/guardians) Explain RMS as a muscle cancer.
- Need for specialist care and multimodal therapy (surgery, chemo, radiation).
- Explain diagnostic and staging process.
- Discuss treatment plan, duration, potential side effects.
- Importance of adherence and follow-up.
Uganda-specific notes
Requires multidisciplinary team approach available at specialized centres (UCI). Pathology confirmation with subtyping crucial. Access to appropriate surgery, chemotherapy, and especially radiotherapy may be limited.
References
- Uganda Clinical Guidelines (UCG) 2023
Chapter 12, Section 12.3.1
- Uganda Cancer Institute Treatment Guidelines / Paediatric Oncology Protocols
(Specific protocols)