eMedicine Specialties > Pediatrics: General Medicine > Oncology

Rhabdomyosarcoma: Differential Diagnoses & Workup

Author: Timothy P Cripe, MD, PhD, Professor of Pediatric Hematology/Oncology, University of Cincinnati; Director, Translational Research Trials Office, Department of Pediatrics, Cincinnati Children's Hospital Medical Center
Contributor Information and Disclosures

Updated: Dec 2, 2008

Differential Diagnoses

Acute Lymphoblastic Leukemia
Nevoid Basal Cell Carcinoma Syndrome
Acute Myelocytic Leukemia
Non-Hodgkin Lymphoma
Ewing Sarcoma and Primitive Neuroectodermal Tumors
Osteosarcoma
Gorlin Syndrome
Pheochromocytoma
Li-Fraumeni Syndrome
Rubinstein-Taybi Syndrome
Liposarcoma
Wilms Tumor
Lymphadenopathy
Lymphoproliferative Disorders
Neuroblastoma

Workup

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

  • 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.

Procedures

  • 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 differential diagnosis if a translocation characteristic of another tumor type is present.
    • 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.10

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.

More on Rhabdomyosarcoma

Overview: Rhabdomyosarcoma
Differential Diagnoses & Workup: Rhabdomyosarcoma
Treatment & Medication: Rhabdomyosarcoma
Follow-up: Rhabdomyosarcoma
References
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References

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  2. Stout AP. Rhabdomyosarcoma of the skeletal muscles. Ann Surg. 1946;123:447-72.

  3. Pappo AS, Shapiro DN, Crist WM, Maurer HM. Biology and therapy of pediatric rhabdomyosarcoma. J Clin Oncol. Aug 1995;13(8):2123-39. [Medline].

  4. Barr FG. Molecular genetics and pathogenesis of rhabdomyosarcoma. J Pediatr Hematol Oncol. Nov-Dec 1997;19(6):483-91. [Medline].

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  7. Oberlin O, Rey A, Lyden E, et al. Prognostic factors in metastatic rhabdomyosarcomas: results of a pooled analysis from United States and European cooperative groups. J Clin Oncol. May 10 2008;26(14):2384-9. [Medline].

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  11. Wolden SL, Wexler LH, Kraus DH, et al. Intensity-modulated radiotherapy for head-and-neck rhabdomyosarcoma. Int J Radiat Oncol Biol Phys. Apr 1 2005;61(5):1432-8. [Medline].

  12. Yock T, Schneider R, Friedmann A, et al. Proton radiotherapy for orbital rhabdomyosarcoma: clinical outcome and a dosimetric comparison with photons. Int J Radiat Oncol Biol Phys. Nov 15 2005;63(4):1161-8. [Medline].

  13. Currier MA, Adams LC, Mahller YY, et al. Widespread intratumoral virus distribution with fractionated injection enables local control of large human rhabdomyosarcoma xenografts by oncolytic herpes simplex viruses. Cancer Gene Ther. Apr 2005;12(4):407-16. [Medline].

  14. Modak S, Guo HF, Humm JL, et al. Radioimmunotargeting of human rhabdomyosarcoma using monoclonal antibody 8H9. Cancer Biother Radiopharm. Oct 2005;20(5):534-46. [Medline].

  15. Bersani F, Taulli R, Accornero P, et al. Bortezomib-mediated proteasome inhibition as a potential strategy for the treatment of rhabdomyosarcoma. Eur J Cancer. Apr 2008;44(6):876-84. [Medline].

  16. Cao L, Yu Y, Darko I, et al. Addiction to elevated insulin-like growth factor i receptor and initial modulation of the AKT pathway define the responsiveness of rhabdomyosarcoma to the targeting antibody. Cancer Res. Oct 1 2008;68(19):8039-48. [Medline].

  17. Klingebiel T, Boos J, Beske F, et al. Treatment of children with metastatic soft tissue sarcoma with oral maintenance compared to high dose chemotherapy: report of the HD CWS-96 trial. Pediatr Blood Cancer. Apr 2008;50(4):739-45. [Medline].

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Further Reading

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Keywords

rhabdomyosarcoma, RMS, alveolar rhabdomyosarcoma, botryoid rhabdomyosarcoma, embryonal rhabdomyosarcoma, spindle cell rhabdomyosarcoma, pleomorphic rhabdomyosarcoma, soft tissue sarcoma, rhabdomyoblasts, pediatric sarcoma, sarcoma, respiratory difficulty, lung nodules, pleural effusion, anemia, thrombocytopenia, neutropenia, menorrhagia, metrorrhagia, neurofibromatosis, Li-Fraumeni syndrome, Rubinstein-Taybi syndrome, Gorlin basal cell nevus syndrome, Beckwith-Wiedemann syndrome, Costello syndrome, Arnold-Chiari malformation

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Contributor Information and Disclosures

Author

Timothy P Cripe, MD, PhD, Professor of Pediatric Hematology/Oncology, University of Cincinnati; Director, Translational Research Trials Office, Department of Pediatrics, Cincinnati Children's Hospital Medical Center
Timothy P Cripe, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Medical Editor

Samuel Gross, MD, Professor Emeritus, Department of Pediatrics, University of Florida, Clinical Professor, Department of Pediatrics, UNC, Adjunct Professor, Department of Pediatrics, Duke University
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.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Steven K Bergstrom, MD, Assistant to the Chairman, 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, American Society of Clinical Oncology, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, and International Society for Experimental Hematology
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA, Executive Director, Center for Cancer and Blood Disorders, Children's National Medical Center; Professor of Medicine, Oncology, and Pediatrics, Georgetown University
Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American Association for Cancer Research, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

 
 
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