Pediatric Rhabdomyosarcoma Clinical Presentation

Updated: May 31, 2018
  • Author: Timothy P Cripe, MD, PhD, FAAP; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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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 [2]

  • 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 [3]



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. [15]

  • 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 [17]

    • Previous exposure to alkylating agents