Epidemiology

Internal medicine

Pathology

Disease

Oncology

Intensive care medicine

Sarcoma

Rhabdomyosarcoma

Soft tissue sarcoma

Radiation therapy

Medicine

Nature Reviews Disease Primers

Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and represents a high-grade neoplasm of skeletal myoblast-like cells. Decades of clinical and basic research have gradually improved our understanding of the pathophysiology of RMS and helped to optimize clinical care. The two major subtypes of RMS, originally characterized on the basis of light microscopic features, are driven by fundamentally different molecular mechanisms and pose distinct clinical challenges. Curative therapy depends on control of the primary tumour, which can arise at many distinct anatomical sites, as well as controlling disseminated disease that is known or assumed to be present in every case. Sophisticated risk stratification for children with RMS incorporates various clinical, pathological and molecular features, and that information is used to guide the application of multifaceted therapy. Such therapy has historically included cytotoxic chemotherapy as well as surgery, ionizing radiation or both. This Primer describes our current understanding of RMS epidemiology, disease susceptibility factors, disease mechanisms and elements of clinical care, including diagnostics, risk-based care of newly diagnosed and relapsed disease and the prevention and management of late effects in survivors. We also outline potential opportunities to further translate new biological insights into improved clinical outcomes. Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. This Primer highlights RMS epidemiology and disease mechanisms and presents the state of the art in clinical care, including diagnostics, risk-based disease management and prevention of late treatment effects.