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Pediatric Rhabdomyosarcoma Workup

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

Laboratory Studies

The following studies are indicated in rhabdomyosarcoma:

  • CBC count: Anemia may be present because of inflammation, or pancytopenia may be present from bone marrow involvement.
  • Liver function tests, including measurement of lactic acid dehydrogenase (LDH), aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase, and bilirubin levels: Metastatic disease of the liver may affect values of these proteins. Liver function must be assessed before chemotherapy.
  • Renal function tests, including measurements of BUN and creatinine levels: Renal function must be assessed before chemotherapy.
  • Urinalysis (UA): Hematuria may indicate involvement of the genitourinary (GU) tract.
  • Blood electrolyte and chemistry, including evaluation of sodium, potassium, chlorine, carbon dioxide, calcium, phosphorous, and albumin values: Assess for abnormalities before chemotherapy.

Imaging Studies

See the list below:

  • Plain radiography: Radiography of the primary site and of the chest is helpful in determining the presence of calcifications and bone involvement of the primary tumor and to search for metastatic lung lesions.
  • CT scanning
    • Obtain a chest CT scan to evaluate for metastases to the lungs. Chest CT scanning is best performed before surgery to avoid atelectasis, which can be confused with metastasis.
    • A CT scan of the primary site may also be helpful in evaluating for bone erosion, if present, and to follow up the patient's response to therapy.
    • Obtain a CT scan of the liver in patients with abdominal or pelvic primary tumors to assess for metastatic spread. Ultrasonography is an alternative.
  • MRI: MRI improves definition of the mass and its invasion of adjacent organs, especially in orbital, paraspinal, or parameningeal regions. Obtain an MRI of the head if the patient is symptomatic at diagnosis.
  • Bone scanning: Search for metastases to the bones.
  • Ultrasonography: Obtain sonograms of the liver in patients with abdominal or pelvic tumors. CT scanning is an alternative.
  • Echocardiography: Assess cardiac function before chemotherapy.


See the list below:

  • Biopsy: Open biopsy best enables adequate tissue sampling for diagnosis and molecular studies. Core needle biopsy is an alternative. Depending on the location, definitive surgery can be postponed to allow for neoadjuvant chemotherapy to shrink the tumor.
  • Cytogenetics, fluorescent in situ hybridization (FISH)
    • This study helps in determining if the translocations t(1;13) or t(2;13), which are associated with the alveolar subtype, are present.
    • FISH also helps in the diagnosis to assess for break-apart of the FKHR gene, though this test will miss the rare variants that don’t involve FKHR.
    • FISH is most sensitive for these translocations and can be helpful in evaluating residual disease.
  • Reverse transcriptase–polymerase chain reaction (RT-PCR) testing
    • When cytogenetic testing is unavailable (eg, culture failure) or when its results are uninformative, order a RT-PCR reaction to assess for the characteristic translocations associated with alveolar rhabdomyosarcoma (ARMS) and other small, round blue-cell tumors of childhood.
    • In many centers, the use of RT-PCR to screen for a panel of translocations associated with soft tissue sarcomas is becoming a routine adjunct to morphologic analysis to help ascertain the diagnosis.
  • Bone marrow aspiration and biopsy: Assess for metastatic spread to bone marrow.

Histologic Findings

Rhabdomyosarcoma is one of the small, round blue-cell tumors of childhood. Occasionally, these types of tumors can be difficult to differentiate. Rhabdomyosarcoma cells tend to have variable differentiation along the myogenesis pathway and may appear as strap cells or myotubes that sometimes contain muscle cross-striations. Rhabdomyosarcoma cells may demonstrate positive immunohistochemical results for muscle-specific markers, such as myoglobin, actin, and desmin.[19]

Cells from the rhabdomyosarcoma subtypes have the following distinctive features:

  • Botryoid: The cambium layer is characteristic, containing a condensation of loose tumor cells below an epithelial surface.
  • Alveolar: Cells line up along membranes that may be imperceptibly thin or that may be obvious collagen bands resembling the lung alveoli. A tumor should be classified as this type if any portion of it appears to be alveolar.
  • Undifferentiated: No evidence of myogenesis differentiation is usually present.
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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