Synovial sarcoma

Title

Categories:

Rare Cancers

Summary Summary

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

Symptoms Symptoms

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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Somatic mutation	-
Synovial sarcoma	-

Last updated: 9/1/2017

Cause Cause

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

Inheritance Inheritance

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

Diagnosis Diagnosis

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

Treatment Treatment

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

Prognosis Prognosis

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

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Research Research

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 studying or have studied 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.

Organizations Organizations

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

Sarcoma Foundation of America
9899 Main Street
Suite 204
Damascus, MD 20872
Telephone: 301-253-8687
Fax: 301-253-8690
E-mail: info@curesarcoma.org
Website: http://www.curesarcoma.org
The Liddy Shriver Sarcoma Initiative
17 Bethea Drive
Ossining, NY 10562-1620
Telephone: 914-762-3251
Fax: 914-941-9181
E-mail: http://sarcomahelp.org/about.html?tpm=1_3
Website: http://sarcomahelp.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

NCATS Co-Sponsored Conferences

Rare Tumors Initiative Symposium Strategies to Develop Therapies for Rare Tumors: Small Numbers, but Big Opportunities Wednesday, June 17, 2015
Location: NIH Natcher Conference Center, Bethesda, MD
Description: The goals of this symposium are to increase communication and build networks between researchers working in rare tumors across NIH, and to get input from patient groups, industry, and the FDA on how to overcome the biggest hurdles in the development of therapies for rare tumors. The Rare Tumors Initiative at NCI, CCR will use this information to prioritize goals for the future and will prepare a white paper summary to help guide researchers worldwide.

Contact: Dr. Karlyne Reilly,(301) 846-7518, reillyk@mail.nih.gov

Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
Overcoming Barriers to International Clinical Trials for Rare Cancers Friday, December 10, 2010
Location: Bethesda, Maryland
Description: The goals of this conference were to introduce key institutional players to the topic of international clinical trials in rare cancers and to establish an ongoing dialogue. Participants left the meeting with a set of specific priorities that need to be enacted to promote these trials. The meeting promoted consensus on the way that resources are prioritized to address rare cancers. Participants were asked to convey the content of the meeting to their constituencies and to follow up with pilot concepts.

Contact: Jack Welch, M.D., Ph.D., jack.welch@nih.govjack.welch@nih.gov

Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
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GARD Answers GARD Answers

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. Submit a new question

I need to know more information about synovial sarcoma. My aunt was diagnosed with this condition, which showed up in her kidney and then spread all over her abdominal area. I want to understand more about it in terms of genetics and the outcome of patients. I can't find much research since it is so rare and any alternative treatments. See answer

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References References

Bernardo Vargas, MD. Synovial Cell Sarcoma. Medscape Reference. November 2014; http://emedicine.medscape.com/article/1257131-overview.
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.
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.

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