Rhabdomyosarcoma in childhood and adolescence: Clinical presentation, diagnostic evaluation, and staging
- M Fatih Okcu, MD, MPH
M Fatih Okcu, MD, MPH
- Professor of Pediatrics
- Baylor College of Medicine
- John Hicks, MD, DDS, PhD
John Hicks, MD, DDS, PhD
- Department of Pathology
- Baylor College of Medicine
- Marc Horowitz, MD
Marc Horowitz, MD
- Baylor College of Medicine
- Section Editors
- Alberto S Pappo, MD
Alberto S Pappo, MD
- Section Editor — Pediatric Oncology
- Head of Solid Malignancies Program
- St. Jude Children's Research Hospital
- Thomas F DeLaney, MD
Thomas F DeLaney, MD
- Section Editor — Bone and Soft Tissue Tumors
- Professor of Radiation Oncology
- Harvard Medical School
Sarcomas are rare, malignant tumors that can arise from mesenchymal tissue at any body site. The histopathologic spectrum of sarcomas is broad, presumably because the embryonic mesenchymal cells from which they originate have the capacity to mature into striated skeletal and smooth muscle, adipose and fibrous tissue, bone, and cartilage.
Rhabdomyosarcomas (RMS) are thought to originate from immature cells that are destined to form striated skeletal muscle; however, these tumors can arise in locations where skeletal muscle is not typically found (eg, the urinary bladder).
Undifferentiated sarcomas derive from mesenchyme that cannot be ascribed to a specific tissue lineage. As such, they are now grouped with non-rhabdomyosarcomatous soft tissue sarcomas  and will not be discussed further in this review.
The treatment of RMS has evolved considerably over the past several decades. Cure rates have risen, largely due to the increasingly intensive, multimodality therapeutic protocols that have been developed by large international cooperative groups, such as the Intergroup Rhabdomyosarcoma Study Group (IRSG). The IRSG has now become the Soft Tissue Sarcoma Committee of the Children's Oncology Group, and the designation IRS is no longer used for cooperative group trials.
This topic review will cover the clinical presentation, diagnostic evaluation, staging, and risk stratification for purposes of treatment selection among patients with RMS. The epidemiology, pathology, molecular pathogenesis, and specific issues related to treatment are discussed elsewhere, as are primary tumors of bone, and other soft tissue neoplasms arising in children as well as adults are discussed elsewhere. (See appropriate topic reviews).
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- CLINICAL PRESENTATION
- Presentation by anatomic site
- - Head and neck
- - Genitourinary tract
- - Extremities
- - Other
- Regional nodes
- Distant metastases
- INITIAL DIAGNOSTIC AND STAGING EVALUATION
- Diagnostic biopsy
- Staging evaluation
- - Radiographic imaging of the primary site
- - Metastatic workup
- - Laboratory studies
- - Lumbar puncture
- - Lymph node assessment
- STAGING AND PROGNOSTIC STRATIFICATION
- Clinical Group
- TNM system
- Prognostic stratification scheme for risk-adapted therapy