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Pediatric Rhabdomyosarcoma Clinical Presentation

  • Author: Timothy P Cripe, MD, PhD, FAAP; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
Updated: May 01, 2016


Rhabdomyosarcoma (RMS) usually manifests as an expanding mass; symptoms depend on the location of the tumor. Pain may be present. If metastatic disease is present, symptoms of bone pain, respiratory difficulty (secondary to lung nodules or to pleural effusion), anemia, thrombocytopenia, and neutropenia may be present. Disseminated rhabdomyoblasts in the bone marrow may mimic leukemia, both in symptoms and light microscopic findings.

Typical presentations by the location of nonmetastatic disease are as follows:

  • Orbit - Proptosis or dysconjugate gaze[5]
  • Paratesticular - Painless scrotal mass
  • Prostate - Bladder or bowel difficulties
  • Uterus, cervix, bladder - Menorrhagia or metrorrhagia
  • Vagina - Protruding polypoid mass (botryoid, meaning a grapelike cluster)
  • Extremity - Painless mass
  • Parameningeal (ear, mastoid, nasal cavity, paranasal sinuses, infratemporal fossa, pterygopalatine fossa) - Upper respiratory symptoms or pain[6]


Physical findings depend on the location of the tumor. Tumors in superficial locations may be palpable and detected relatively early, but those in deep locations (eg, retroperitoneum) may grow large before causing symptoms.



The cause of rhabdomyosarcoma is unclear. Several genetic syndromes and environmental factors are associated with increased prevalence of rhabdomyosarcoma.[16]

  • Genetic syndromes include the following:
  • A higher prevalence of congenital anomalies are observed in patients who later develop rhabdomyosarcoma with locations as follows:
    • Genitourinary (GU) tract
    • CNS (ie, Arnold-Chiari malformation)
    • GI tract
    • Cardiovascular system
  • Environmental factors appear to influence the development of rhabdomyosarcoma, as follows:
    • Parental use of marijuana and cocaine
    • Intrauterine exposure to X-rays[18]
    • Previous exposure to alkylating agents
Contributor Information and Disclosures

Timothy P Cripe, MD, PhD, FAAP Chief, Division of Hematology/Oncology/BMT, Gordon Teter Endowed Chair in Pediatric Cancer, Nationwide Children's Hospital; Professor of Pediatrics, Ohio State University College of Medicine

Timothy P Cripe, MD, PhD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Association for Cancer Research, American Pediatric Society, American Society of Gene and Cell Therapy, American Society of Pediatric Hematology/Oncology, Connective Tissue Oncology Society, Society for Pediatric Research, Children's Oncology Group

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Steven K Bergstrom, MD Department of Pediatrics, Division of Hematology-Oncology, Kaiser Permanente Medical Center of Oakland

Steven K Bergstrom, MD is a member of the following medical societies: Alpha Omega Alpha, Children's Oncology Group, American Society of Clinical Oncology, International Society for Experimental Hematology, American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA Executive Vice President, Chief Medical and Academic Officer, Renown Heath

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.


Samuel Gross, MD Professor Emeritus, Department of Pediatrics, University of Florida College of Medicine; Clinical Professor, Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine; Adjunct Professor, Department of Pediatrics, Duke University School of Medicine

Samuel Gross, MD is a member of the following medical societies: American Association for Cancer Research, American Society for Blood and Marrow Transplantation, American Society of Clinical Oncology, American Society of Hematology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

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Axial CT scan of rhabdomyosarcoma in the left middle ear. Image provided by Suresh Muhkerji, MD, Department of Radiology, University of North Carolina Hospitals.
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