Pediatric Rhabdomyosarcoma Clinical Presentation: History, Physical, Causes

17/01/16 14:01

Pediatric Rhabdomyosarcoma Clinical Presentation

Author: Timothy P Cripe, MD, PhD, FAAP; Chief Editor: Max J Coppes, MD, PhD, MBA more...
Updated: Jun 16, 2014

History
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
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.

Causes
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:
Neurofibromatosis (4-5% risk of any one of numerous malignancies)
Li-Fraumeni syndrome (germline mutation of the tumor suppressor gene TP53)
Rubinstein-Taybi syndrome
Gorlin basal cell nevus syndrome
Beckwith-Wiedemann syndrome
Costello syndrome[17]
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
Differential Diagnoses

Contributor Information and Disclosures

Author
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

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Pediatric Rhabdomyosarcoma Clinical Presentation: History, Physical, Causes

17/01/16 14:01

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.
Acknowledgements
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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