National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Synovial sarcoma


Other Names:
Synovial cell sarcoma; Synovialosarcoma
Categories:
Synovial sarcoma is a rare and aggressive soft tissue sarcoma. In the early stages of the condition, it may cause no noticeable signs or symptoms. However, as the tumor grows larger, affected people may notice a lump or swelling. In some cases, the tumor can limit range of motion or cause numbness and/or pain if it presses on nearby nerves. Although synovial sarcoma does not have a clearly defined cause, genetic factors are believed to influence the development of this disease. Cells in these tumors are usually characterized by the presence of a translocation involving chromosomes X and 18. This translocation is specific to synovial sarcoma and is often used to diagnose the condition. Treatment generally includes a combination of surgery, radiation therapy and/or chemotherapy.[1][2][3]
Last updated: 9/10/2015
In the early stages of the condition, synovial sarcoma may cause no noticeable signs or symptoms. However, as the tumor grows larger, affected people may notice a lump or swelling. In some cases, the tumor can limit range of motion or cause numbness and/or pain if it presses on nearby nerves. The symptoms of synovial sarcoma can be mistaken for those of inflammation of the joints (arthritis) or other non-cancerous conditions that cause inflammation such as bursitis and synovitis.[1][2]
Last updated: 9/9/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Somatic mutation 0001428
Synovial sarcoma 0012570
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Last updated: 7/1/2020
The exact underlying cause of synovial sarcoma is poorly understood. However, studies show that a certain genetic change is identified in more than 90% of cases. More specifically, a translocation between chromosome X and chromosome 18 appears to play a role in the development of synovial sarcoma. This alteration is known as a somatic mutation because it only develops in some cells of the body during a person's lifetime and is not inherited.[1]

Certain inherited conditions such as Li Fraumeni syndrome or neurofibromatosis type 1 are associated with an increased risk of developing synovial sarcoma and other forms of soft tissue sarcoma. Some studies suggest that exposure to radiation therapy and/or certain chemical carcinogens may also be risk factors for soft tissue sarcoma.[2]
Last updated: 9/9/2015
Most cases of synovial sarcoma are not thought to be inherited. It generally occurs sporadically in people with no family history of the condition.[1]

Rarely, synovial sarcoma and other types of soft tissue sarcoma are associated with an inherited condition such as Li Fraumeni syndrome or neurofibromatosis type 1, which are both inherited in an autosomal dominant manner.[2] In autosomal dominant conditions, a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the sarcomas and other types of tumors. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with one of these conditions has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Last updated: 9/9/2015
A diagnosis of synovial sarcoma may first be suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis, determine the severity of the condition and inform treatment options. These tests may include:[1][3]
  • Imaging studies such as x-ray, CT scan and/or MRI scan
  • Genetic testing to detect the specific chromosomal translocation between chromosome 18 and chromosome X that is identified in most cases of synovial sarcoma
  • A biopsy of the tumor

Medscape Reference's Web site offers more specific information regarding the diagnosis of synovial sarcoma. Please click on the link to access this resource.
Last updated: 9/9/2015
The treatment of synovial sarcoma depends on the age of the person; the size and location of the tumor and the severity of the disease. The most common treatment is surgery to remove the entire tumor. In some cases, radiation therapy and/or chemotherapy may also be necessary before and/or after the surgery. When given before surgery, radiation therapy and chemotherapy may reduce the size of the tumor, allowing less tissue to be removed. These therapies may be given after surgery to reduce the risk of recurrence.[1][3]

The National Cancer Institute's Web site offers more specific information regarding the treatment and management of synovial sarcoma and other forms of soft tissue sarcoma. Please click on the link to access this resource.
Last updated: 9/9/2015
The long-term outlook (prognosis) for people with synovial sarcoma depends on many factors, including the size, grade and stage of the tumor; where the tumor is located; and the affected person's age and overall health. In general, synovial sarcoma has a survival rate of 50-60% at 5 years and 40-50% at 10 years. Recurrence has been reported up to 69 months after treatment and suggests a worse prognosis with low survival rates.[1][3]
Last updated: 9/10/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Synovial sarcoma. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Synovial sarcoma. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Synovial sarcoma:
    ShareMD Patient Registry
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Dana Farber Cancer Institute has an webpage on this disorder with information on symptoms and diagnosis, treatment, and long-term outlook,
  • The Mayo Clinic Web site provides further information on Synovial sarcoma.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Synovial sarcoma. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Bernardo Vargas, MD. Synovial Cell Sarcoma. Medscape Reference. November 2014; http://emedicine.medscape.com/article/1257131-overview.
  2. Christopher W Ryan, MD; Janelle Meyer, MD. Clinical presentation, histopathology, diagnostic evaluation, and staging of soft tissue sarcoma. UpToDate. January 2015; Accessed 9/9/2015.
  3. Adult Soft Tissue Sarcoma Treatment. National Cancer Institute. April 2015; http://www.cancer.gov/types/soft-tissue-sarcoma/patient/adult-soft-tissue-treatment-pdq#section/_50.