Extraskeletal Mesenchymal Chondrosarcoma

Extraskeletal Mesenchymal Chondrosarcoma

Article
Diseases & Conditions
Cancer & Benign Tumors
Contributed byMaulik P. Purohit MD MPHSep 11, 2018

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

  • EMCS (Extraskeletal Mesenchymal Chondrosarcoma)
  • Mesenchymal Chondrosarcoma of Soft Tissue

What is Extraskeletal Mesenchymal Chondrosarcoma? (Definition/Background Information)

  • Extraskeletal Mesenchymal Chondrosarcoma (EMCS) is an infrequent, aggressive malignancy of the soft tissues. Teens and young adults are most prone to this tumor type
  • The cause of tumor formation is reportedly due to genetic mutations and chromosomal aberrations. The risk factors for Extraskeletal Mesenchymal Chondrosarcoma is presently unidentified
  • The common location for this tumor is the limbs, followed by the head and neck region. EMCS tumors can grow to large sizes and compress other tissues and organs
  • Any combination of chemotherapy, radiation therapy, and surgical measures may be used to treat Extraskeletal Mesenchymal Chondrosarcoma. However, the prognosis for EMCS is generally guarded

Who gets Extraskeletal Mesenchymal Chondrosarcoma? (Age and Sex Distribution)

  • Extraskeletal Mesenchymal Chondrosarcomas are mostly observed in adolescents and young adults in the age group 10-30 years
  • They are rare in children below 10 years of age
  • There is a slight predisposition towards the female gender, though both males and females are affected
  • There is no known ethnic or racial preference
  • EMCS constitutes about 30-40% of all mesenchymal chondrosarcomas, which are rare types of chondrosarcomas (bone malignancies)

What are the Risk Factors for Extraskeletal Mesenchymal Chondrosarcoma? (Predisposing Factors)

  • Currently, the specific risk factors for Extraskeletal Mesenchymal Chondrosarcoma development are unknown

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s 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 Extraskeletal Mesenchymal Chondrosarcoma? (Etiology)

The cause of Extraskeletal Mesenchymal Chondrosarcoma formation is due to genetic factors. Currently, studies indicate defects in the following genes:

  • HEY1-NCOA2 causing chromosomal abnormality namely inv(8)(q13q21)
  • Inconsistently, the following defects have been noted:
    • Chromosomal translocation t(11;22)(q24;q12)
    • Chromosomal translocation on chromosomes 8 and 20
    • Chromosomal additions on 12

What are the Signs and Symptoms of Extraskeletal Mesenchymal Chondrosarcoma?

The presentations are based on the location of the tumor. Extraskeletal Mesenchymal Chondrosarcoma signs and symptoms may include:

  • EMCS is an aggressive tumor that may be present in the arms and legs, the meninges of the brain, and the orbit of the eye
  • Other locations in the head and neck region include the sino-nasal tract; extremely rarely, the buccal mucosa (inner cheek lining) may be involved
  • In the initial growing phase of the tumors, they may be asymptomatic
  • These soft tissue tumors may grow at a slow-to-moderate rate, and then may suddenly start progressing rapidly in size
  • Large-sized tumor may compress the adjoining organs, nerves, and muscles (due to the mass effect of the tumor)
  • There may be pain and tenderness (in lesions beneath the skin)

How is Extraskeletal Mesenchymal Chondrosarcoma Diagnosed?

A diagnosis of Extraskeletal Mesenchymal Chondrosarcoma may involve the following tools:

  • Complete physical examination and comprehensive evaluation of the individual’s medical history
  • X-ray studies of the affected region
  • CT, MRI scan of the affected region

Although the above modalities can be used to make an initial diagnosis, a tissue biopsy of the tumor is necessary to make a definitive diagnosis to begin treatment. The tissue for diagnosis can be procured in multiple different ways which include:

  • Fine needle aspiration (FNA) biopsy of the tumor: A FNA biopsy may not be helpful, because one may not be able to visualize the different morphological areas of the tumor. Hence, a FNA biopsy as a diagnostic tool has certain limitations, and an open surgical biopsy may be recommended.
  • Core biopsy of the tumor
  • Open biopsy of the tumor

Tissue biopsy:

  • A tissue biopsy of the tumor is performed and sent to a laboratory for a pathological examination. A pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis. Examination of the biopsy under a microscope by a pathologist is considered to be gold standard in arriving at a conclusive diagnosis
  • Biopsy specimens are studied initially using Hematoxylin and Eosin staining. The pathologist then decides on additional studies depending on the clinical situation
  • Sometimes, the pathologist may perform special studies, which may include immunohistochemical stains, molecular testing, and very rarely, electron microscopic studies to assist in the diagnosis

Note: A differential diagnosis to eliminate other tumor types is often considered, before arriving at a definitive diagnosis.

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 Extraskeletal Mesenchymal Chondrosarcoma?

Complications are dependent on the site and severity of Extraskeletal Mesenchymal Chondrosarcoma. These include:

  • Deep-seated tumors (those buried in the body tissues) may affect adjoining tissues and organs by compressing them. Large tumors can lead to organ failure
  • Metastasis to local and regional sites
  • Tumor recurrence following their surgical removal
  • Damage to vital nerves, blood vessels, and surrounding structures during surgery
  • Side effects from chemotherapy (such as toxicity), radiation therapy

How is Extraskeletal Mesenchymal Chondrosarcoma Treated?

A combination of chemotherapy, radiation therapy, and invasive procedures, are used to treat Extraskeletal Mesenchymal Chondrosarcoma. Treatment measures for EMCS may include the following:

  • Wide surgical excision with removal of the entire lesion is the standard and preferred treatment mode
  • Radiation therapy and chemotherapy may be administered, before or after the surgical procedure
  • When EMCS is at an inaccessible location, or is unsafe for surgical intervention; non-invasive procedures are adopted
  • Post-operative care is important: A 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 Extraskeletal Mesenchymal Chondrosarcoma be Prevented?

  • Current medical research has not established a method of preventing Extraskeletal Mesenchymal Chondrosarcoma.
  • Due to both its metastasizing potential and chances of recurrence, often several years of active follow-up vigilance is necessary

What is the Prognosis of Extraskeletal Mesenchymal Chondrosarcoma? (Outcomes/Resolutions)

  • Extraskeletal Mesenchymal Chondrosarcomas are rare, but malignant and aggressive tumors. The prognosis of individuals with the tumor is mostly guarded. The tumor is known to usually cause widespread metastasis
  • In general, the prognosis depends on a combination of factors, such as:
    • Stage of tumor: With lower-stage tumors, when the tumor is confined to site of origin, the prognosis is usually excellent with appropriate therapy. In higher-stage tumors, such as tumors with metastasis, the prognosis is poor
    • The size of the tumor: Individuals with small-sized tumors fare better than those with large-sized tumors
    • Overall health of the individual: Individuals with overall excellent health have better prognosis compared with those with poor health
    • Age of the individual: Older individuals generally have poorer prognosis than younger individuals
    • Individuals with bulky disease have a poorer prognosis
    • Involvement of the lymph node can adversely affect the prognosis
    • Involvement of vital organs may complicate the condition
    • The surgical respectability of the tumor (meaning, if the tumor can be removed completely)
    • Whether the tumor is occurring for the first time, or is a recurrent tumor. Recurring tumors have worse prognosis compared to tumors that do not recur
    • Response to treatment: Tumors that respond to treatment have better prognosis compared to tumors that do not respond to treatment
    • Progression of the condition makes the outcome worse
  • An early diagnosis and prompt treatment of the tumor generally yields better outcomes than a late diagnosis and delayed treatment

Additional and Relevant Useful Information for Extraskeletal Mesenchymal Chondrosarcoma:

  • Chondrosarcoma is a class of soft tissue and bone tumor, belonging to the sarcoma family. These develop from cells that were originally meant to form cartilages, but get transformed due to various reasons into cancerous tumors
  • The risk factors for Extraskeletal Mesenchymal Chondrosarcoma are generally unknown. But, on the case where the tumor was found in the inner cheek of a young male patient, there was a prior recorded trauma. The boy had been hit on the face, 6 months earlier, by a cricket ball
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Maulik P. Purohit MD MPH picture
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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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