Rhabdomyosarcoma
Synonyms: Embryonal rhabdomyosarcoma, alveolar RMS, pleomorphic RMS
Most common soft tissue sarcoma in children
Quick Facts
Behaviour
Malignant
Category
Soft tissue
Grade
High
Synonyms
- Embryonal rhabdomyosarcoma
- alveolar RMS
- pleomorphic RMS
Category
Soft tissue
Behaviour
Malignant
Grade
High
Gender
M = F
Tissue of Origin
Skeletal muscle
Epidemiology
- Most common soft tissue sarcoma in children
- Peak incidence <5 years for embryonal subtype
- Alveolar: slightly older children
Clinical Features
- Rapidly growing mass
- Pain if deep location
- Site-dependent symptoms (biliary, bladder obstruction)
Location
- Biliary tract (botryoid)
- Bladder/prostate (botryoid)
- Extremities
- Head and neck
- Parameningeal locations
Imaging
- MRI primary site - essential for surgical planning
- CT chest/abdomen/pelvis - metastatic staging
Pathology
- Small round cells with myogenic differentiation
- Embryonal: myxoid background
- Alveolar: nested pattern with PAX-FOXO1 fusion
Genetics
- PAX3-FOXO1 in alveolar (t(2;13))
- PAX7-FOXO1 in alveolar (t(1;13))
- PAX-FOXO1 negative in embryonal
Treatment
- Multiagent chemotherapy (VAC/IE)
- Local control: surgery and/or radiotherapy
Prognosis
- Embryonal: 70% 5-year survival
- Alveolar: 50% 5-year survival
- Stage and histology critical prognostic factors
Key Points
- Most common soft tissue sarcoma in children
- PAX-FOXO1 status defines risk stratification
- Multimodal therapy standard
Workup - Blood Tests
- FBC, U&E, LFTs - baseline and pre-chemo
- LDH - prognostic marker
Workup - Local Imaging
- MRI primary site with gadolinium - local staging
- CT chest/abdomen/pelvis - metastatic staging
- PET-CT - systemic staging
Workup - Biopsy
- Core needle biopsy - confirm diagnosis
- PAX-FOXO1 FISH essential for prognostic stratification
Workup - Staging
- CT chest/abdomen/pelvis - metastases
- PET-CT - staging
Workup - Other
Paediatric oncology MDT mandatory
Follow-up Summary
- 1
Year 1
2-monthly clinical examination, CXR, plain films of primary bony site; soft tissue tumours - baseline end-of-treatment MRI/CT primary site, thereafter at clinician's discretion; radiotherapy as definitive local treatment - baseline end-of-treatment MRI/CT, then at 6 and 12 months; end of Year 1 - gonadal function and renal function
- 2
Years 2–3
3-monthly clinical examination, CXR, plain films of bony primary site; MRI of soft tissue primary site at clinician's discretion; radiotherapy patients - MRI/CT at 18 and 24 months; MUGA/ECHO 2 years post-diagnosis; annual renal function
- 3
Year 4
6-monthly clinical examination, CXR, plain films of primary site; MRI of soft tissue primary at clinician's discretion; MUGA/ECHO 4 years post-diagnosis; annual renal function
- 4
Year 5
6-monthly clinical examination, CXR, plain films of primary site; annual renal function
- 5
Years 6–10
Annual clinical examination, CXR, plain films of primary site; MUGA/ECHO 6 years post-diagnosis; annual renal function
- 6
Discharge at 10 years after surgery
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