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Embryonal Rhabdomyosarcoma (ERMS)

Embryonal Rhabdomyosarcoma (ERMS) is an infrequent, but malignant ‘skeletal muscle’ tumor of the soft tissues.

What are the other Names for this Condition? (Also known as/Synonyms)

  • Embryonal Sarcoma
  • Malignant Rhabdomyoma
  • Rhabdopoietic Sarcoma

What is Embryonal Rhabdomyosarcoma? (Definition/Background Information)

  • Embryonal Rhabdomyosarcoma (ERMS) is an infrequent, but malignant ‘skeletal muscle’ tumor of the soft tissues
  • The tumors are poorly-defined, fleshy, expanding masses that form deep within the body tissues, or below the skin surface. It may develop due to inherited or random gene mutations
  • Young children are highly prone to be affected by this soft tissue sarcoma
  • The regular location for this tumor is the head and neck, followed by the urogenital region. Other not so frequent locations include the skin and limbs

Who gets Embryonal Rhabdomyosarcoma? (Age and Sex Distribution)

  • Embryonal Rhabdomyosarcoma is mostly observed in young children (including infants and neonates) below the age of 10 years. The maximum incidents are seen in the 1-5 year age group. Young adults over the age of 25 years are hardly affected
  • There is a slight predisposition towards the male sex with a male-female ratio of 1.5:1
  • Ethnic/racial preference in Europe & US is noted (per World Health Organization), as a % of total number of cases: Asians – 4.5%, Hispanics – 10%, Afro-Americans – 14%, White Caucasians (non-Hispanics) – 70%

What are the Risk Factors for Embryonal Rhabdomyosarcoma? (Predisposing Factors)

The risk of pediatric Embryonal Rhabdomyosarcoma is thought to be linked to the following factors and disorders:

  • Inherited genetic defects
  • Use of drugs like cocaine, marijuana; by the parent mother
  • Carcinogens (some have been found on mice and certain types of fish)
  • Beckwith-Wiedemann syndrome
  • Costello syndrome
  • Li-Fraumeni syndrome
  • Neurofibromatosis (type) 1
  • Noonan syndrome

The body physiological conditions, a regular lifestyle, or environmental factors, do not play any role in Embryonal Rhabdomyosarcoma development.

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Embryonal Rhabdomyosarcoma? (Etiology)

  • The cause and mechanism of Embryonal Rhabdomyosarcoma formation is unknown
  • The tumor is said to arise from embryonic connective tissues responsible for skeletal muscle development.
  • It is suspected that either inherited genetic defects or de novo (sporadic and spontaneous) genetic mutations may be the causative factors
  • Chromosomes 2, 8, and 11 have been found to be altered, indicating complex mutations with gain/loss of genetic material. Also, an absence or modification of tumor suppressor gene has been observed. These changes are said to be responsible for ERMS; but the exact process how the tumor develops, is not clearly understood
  • Hereditary forms of the disorder might be associated with any of the conditions such as; Beckwith-Wiedemann syndrome, Costello syndrome, Li-Fraumeni syndrome, Neurofibromatosis (type) 1, and Noonan syndrome. Nevertheless, these hereditary forms (termed syndrome-associated ERMS) are said to account for only a few percentage of the total number of cases

What are the Signs and Symptoms of Embryonal Rhabdomyosarcoma?

The presentations are based on the location of ERMS. Signs and symptoms of Embryonal Rhabdomyosarcoma include:

  • In the initial growing phase of the tumors, they are normally asymptomatic
  • As tumor grows rapidly, its presence is felt by pain and a sensation of mass. The mass can cause compression on the body region, resulting in obstruction of adjacent organs
  • Most lesions occur in the head and neck (specifically in the tissues around the eyes, parotid gland, ear canal, nasal passage, mouth, and cheek) followed by the urinary and genital region (bladder, prostate gland, testes). Occasionally it is found in the limbs, under the skin, abdomen, liver, heart, and lungs
  • Some of the symptoms noted on the head and neck region include: Bulging of the eyes, double vision, deafness (on the side where lesion is present), inflammation of the nasal cavity (sinusitis), nosebleeds, congestion, headaches
  • Some of the symptoms noted in the abdomen, urogenital region include: Vomiting, constipation, blocked urinary bladder, scrotal mass, blood/fluid discharge from vagina, yellowing of the eyes (jaundice)
  • Functional impairment of organs due to mass effect

How is Embryonal Rhabdomyosarcoma Diagnosed?

Embryonal Rhabdomyosarcoma is diagnosed by:

  • Physical examination, evaluation of patient’s medical history
  • Histopathological studies conducted on a biopsy specimen
  • Ultrasonography of the affected region
  • CT, MRI scan of the affected region
  • Whole-body PET scan, bone scan of affected region to check for tumor metastasis. This helps with the staging of the tumor

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Embryonal Rhabdomyosarcoma?

Complications from Embryonal Rhabdomyosarcoma could include:

  • Complications are dependent on the site and stage of the tumor. It is easier to treat the primary tumor; but if metastasis occurs, treatment can be challenging. Post metastasis, the 5 year survival rate is around 30%
  • Metastasis occurrence rate is about 10%, with lungs and bones being the main areas affected. This can cause symptoms such as breathing difficulty, anemia, fluid in the space around lungs, low blood count, frequent infection, bleeding etc.
  • Damage to vital nerves, blood vessels, and surrounding structures during surgery
  • Side effects from chemotherapy (such as toxicity), radiation therapy (radiation fibrosis)

How is Embryonal Rhabdomyosarcoma Treated?

Treatment measures for Embryonal Rhabdomyosarcoma include the following:

  • Wide surgical excision of ERMS with removal of the entire lesion; which is followed by radiation and a course of intensive chemotherapy. This is the standard treatment protocol
  • Arterial embolization of the tumor is used to provide temporary relief from the symptoms, and reduce blood loss during ‘tumor removal’ surgical procedure
  • When ERMS is at an inaccessible location, or is unsafe for surgical intervention; non-invasive procedures are adopted
  • Post-operative care is important: Minimum activity level is to be ensured until the surgical wound heals. Follow-up care with regular screening and check-ups are important

How can Embryonal Rhabdomyosarcoma be Prevented?

  • Current medical research have not established a way of preventing Embryonal Rhabdomyosarcoma
  • Genetic counseling and testing: If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • The presence of any tumor or lesion should be immediately informed to the physician
  • Regular medical screening at periodic intervals with blood tests, scans, and physical examinations are mandatory for those who have already endured ERMS; due to its metastasizing potential and chances of recurrence. Often several years of active vigilance is necessary

What is the Prognosis of Embryonal Rhabdomyosarcoma? (Outcomes/Resolutions)

  • Embryonal Rhabdomyosarcomas are rare, but malignant cancers
  • The long-term prognosis may depend on a combination of factors such as; Age of the individual, tumor stage at detection, size, type, and location of the tumor, and whether it has spread to surrounding areas, or to other distant locations
  • The long-term outcome is moderate for most individuals (70% survival rate over a 5 year period); if metastases has not occurred
  • A poor outcome is associated with ERMS located in the limbs or brain.  Lesions below the skin, around the eyes, in the vagina, and testes region, fare better than other sites of origins

Additional and Relevant Useful Information for Embryonal Rhabdomyosarcoma:

  • Amongst pediatric soft tissue sarcomas (affecting children less than 15 years), Rhabdomyosarcomas form the largest category
  • Embryonic, Alveolar, and Pleomorphic Rhabdomyosarcoma are the 3 types of Rhabdomyosarcoma
  • ERMS has 3 sub-types based on histopathological taxonomy: Spindle Cell Rhabdomyosarcoma, Botryoid Rhabdomyosarcoma, and Anaplastic Rhabdomyosarcoma

What are some Useful Resources for Additional Information?

American Cancer Society (ACS)
1599 Clifton Road, NE Atlanta, GA 30329-4251
Toll-Free: (800) 227-2345
TTY: (866) 228-4327
Website: http://www.cancer.org

National Cancer Institute (NCI)
U.S. National Institutes of Health
Public Inquiries Office
Building 31, Room 10A03
31 Center Drive, MSC 8322 Bethesda, MD 20892-2580
Phone: (301) 435-3848
Toll-Free: (800) 422-6237
TTY: (800) 332-8615
Email: cancergovstaff@mail.nih.gov
Website: http://www.cancer.gov

References and Information Sources used for the Article:

http://atlasgeneticsoncology.org/Tumors/EmbryoRhabdomyoID5193.html (accessed on 12/19/12)

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2323537/ (accessed on 12/19/12)

Pathology & Genetics: Tumours of Soft Tissue and Bone; WHO Classification of Tumours; Edited by Christopher D.M. Fletcher, K. Krishnan Unni, Fredrik Mertens; IARC Press, Lyon, 2002

Helpful Peer-Reviewed Medical Articles:

Bisceglia, M., Magro, G., Carosi, I., Cannazza, V., & Ben Dor, D. (2011). Primary embryonal rhabdomyosarcoma of the prostate in adults: report of a case and review of the literature. Int J Surg Pathol, 19(6), 831-837. doi: 10.1177/1066896910395585

Koukourakis, G. V., Kouloulias, V., Zacharias, G., Maravelis, G., Papadimitriou, C., Platoni, K., & Gouliamos, A. (2009). Embryonal rhabdomyosarcoma of the uterine cervix. Clin Transl Oncol, 11(6), 399-402. 

Li, R. F., Gupta, M., McCluggage, W. G., & Ronnett, B. M. (2013). Embryonal rhabdomyosarcoma (botryoid type) of the uterine corpus and cervix in adult women: report of a case series and review of the literature. Am J Surg Pathol, 37(3), 344-355. doi: 10.1097/PAS.0b013e31826e0271

Sergi, C., Kulkarni, K., Stobart, K., Lees, G., & Noga, M. (2012). Clear cell variant of embryonal rhabdomyosarcoma: report of an unusual retroperitoneal tumor--case report and literature review. Eur J Pediatr Surg, 22(4), 324-328. doi: 10.1055/s-0032-1308714

Williamson, D., Missiaglia, E., de Reynies, A., Pierron, G., Thuille, B., Palenzuela, G., ... & Pritchard-Jones, K. (2010). Fusion gene–negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma. Journal of Clinical Oncology, 28(13), 2151-2158.

Langenau, D. M., Keefe, M. D., Storer, N. Y., Guyon, J. R., Kutok, J. L., Le, X., ... & Zon, L. I. (2007). Effects of RAS on the genesis of embryonal rhabdomyosarcoma. Genes & development, 21(11), 1382-1395.

Rubin, B. P., Nishijo, K., Chen, H. I. H., Yi, X., Schuetze, D. P., Pal, R., ... & Davis, S. (2011). Evidence for an unanticipated relationship between undifferentiated pleomorphic sarcoma and embryonal rhabdomyosarcoma. Cancer cell, 19(2), 177-191.

Taulli, R., Scuoppo, C., Bersani, F., Accornero, P., Forni, P. E., Miretti, S., ... & Ponzetto, C. (2006). Validation of met as a therapeutic target in alveolar and embryonal rhabdomyosarcoma. Cancer research, 66(9), 4742-4749.