Sarcopedia

MalignantSoft tissue

Alveolar Rhabdomyosarcoma

Synonyms: ARMS, alveolar-type rhabdomyosarcoma

Highly aggressive rhabdomyosarcoma characterized by primitive, round cells showing skeletal muscle differentiation

Quick Facts

Behaviour

Malignant

Category

Soft tissue

Grade

High

Synonyms

  • ARMS
  • alveolar-type rhabdomyosarcoma

Category

Soft tissue

Behaviour

Malignant

Grade

High

Gender

M = F

Tissue of Origin

Skeletal muscle

Epidemiology

  • High-grade embryonal rhabdomyosarcoma subtype
  • Peak incidence in older children than embryonal rhabdomyosarcoma
  • Peak incidence 10-25 years
  • More aggressive than embryonal type

Clinical Features

  • Rapidly growing deep soft tissue mass
  • Metastases often present at diagnosis (25-30%) via lymphatic or hematogenous spread

Location

  • Extremities most common
  • Trunk and paraspinal region
  • Head and neck

Imaging

  • Radiological features are nonspecific in differentiating from other sarcomas
  • Plain radiograph: soft tissue density mass
  • Ultrasound: heterogeneous non uniform mass of low to medium echogenicity
  • CT: soft tissue density lesion with contrast enhancement
  • MRI: low to medium intensity lesion on T1, hyperintense lesion with conspicuous vascularity on T2

Pathology

  • Nested architecture with PAX-FOXO1 fusion
  • Small round cells with myogenic features
  • Higher grade than embryonal type

Genetics

PAX3-FOXO1 (t(2;13)) or PAX7-FOXO1 (t(1;13)) translocations

Treatment

  • Intensive multiagent chemotherapy based on risk group
  • Wide local resection for local control and/or radiotherapy
  • Radiotherapy to primary tumour and metastatic sites may be considered
  • Intergroup Rhabdomyosarcoma Study Postsurgical Clinical Grouping System is recommended to plan treatment

Prognosis

  • 50% 5-year survival for alveolar subtype
  • Fusion-positive ARMS has worse prognosis
  • Metastatic disease at diagnosis significantly impacts prognosis

Key Points

  • Highly aggressive rhabdomyosarcoma characterized by primitive, round cells showing skeletal muscle differentiation
  • Older age of presentation than embryonal type
  • Higher metastatic potential

Workup - Blood Tests

  • FBC, U&E, LFTs - baseline and pre-chemo
  • LDH - prognostic marker

Workup - Local Imaging

MRI with contrast of primary site

Workup - Biopsy

  • Core needle biopsy
  • Lymph node biopsy if lymph node involvement is clinically or radiologically doubtful, and as standard of care in extremity RMS
  • Molecular workup - minimum evaluation of FOX01 fusion status and MY0D1

Workup - Staging

  • CT chest/abdomen/pelvis
  • Whole body MRI or PET-CT per LSESN guidelines

Workup - Other

Paediatric oncology MDT mandatory

Follow-up Summary

Medical disclaimer

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