Rare Neurology News

Disease Profile

Synovial sarcoma

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset

All ages





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Synovial cell sarcoma; Synovialosarcoma


Rare Cancers


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]


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]

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.

Medical Terms Other Names
Learn More:
Percent of people who have these symptoms is not available through HPO
Somatic mutation
Synovial sarcoma


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]


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.


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.


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

    Learn more

    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.


        1. Bernardo Vargas, MD. Synovial Cell Sarcoma. Medscape Reference. November 2014; https://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; https://www.cancer.gov/types/soft-tissue-sarcoma/patient/adult-soft-tissue-treatment-pdq#section/_50.

        Rare Neurology News