Genetically Defined Solid Tumors

Cancers may be caused by mutations in single genes that can cause cells to grow out of control and proliferate. Testing of an individual’s tumor can identify the specific mutation of an individual’s cancer, which can help match a patient to the optimal treatment option for that specific cancer.

There are multiple types of genetically defined solid tumor cancers, and these various types can affect both adults and children.

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Epithelioid sarcoma is an aggressive soft tissue cancer. Epithelioid sarcoma most often develops in tissues under the skin of the hands, forearms, feet or lower legs, but can occur other places as well. Epithelioid sarcoma is often diagnosed in young adults aged 20 to 40 year olds.

Synovial sarcoma is a cancer that arises from soft tissues near the joints. The soft tissues in the body include the muscles, tendons, fat, blood vessels, nerves and tissues around joints. Synovial sarcoma is most often found in young people, usually younger than 30 years old.

Renal medullary carcinoma is an aggressive cancer that affects a person’s kidney. Renal medullary carcinoma is almost always associated with sickle cell trait and most often affects young people in the teenage years or 20s.

Rhabdoid tumors are aggressive tumors that may occur by chance or as part of a hereditary cancer syndrome. Rhabdoid tumors usually develop in infants and young children, but can occur in older children and adults. These tumors, which can occur in different parts of the body, are called different names depending on the location, including malignant rhabdoid tumor, malignant rhabdoid tumor of the ovary (also known as small cell carcinoma of the ovary, hypercalcemic type or SCCOHT), rhabdoid tumor of the kidney and atypical teratoid rhabdoid tumor (ATRT) and thoracic sarcoma (rhabdoid type). 

There are a variety of other cancers caused by changes in the INI1 gene. These cancers include epithelioid malignant peripheral nerve sheath tumor, extraskeletal myxoid chondrosarcoma, myoepithelial carcinoma, sacral chordoma, spindle cell sarcoma, squamous cell carcinoma, teratocarcinoma, papillary thyroid carcinoma and undifferentiated sarcoma. These tumors can affect both adults and children.

Clinical Trials in Genetically Defined Solid Tumors

Epizyme is currently enrolling adults and children with genetically defined solid tumor cancers in clinical trials to evaluate tazemetostat as a potential option for these cancers.

Adult Clinical Trials

Epizyme is current enrolling adult patients (16 years or older) in a phase 2 clinical trial. This study is evaluating the potential for tazemetostat treatment of multiple solid tumors:

  • Epithelioid sarcoma
  • Synovial sarcoma
  • Renal cell carcinoma
  • Rhabdoid tumors
  • Other INI1-negative tumors

For more detailed information on this trial, please visit:

Pediatric Clinical Trial

Epizyme is enrolling pediatric patients (6 months to 21 years) in a phase 1 clinical trial. The study is evaluating the potential for tazemetostat to treat children with INI1-negative tumors, including rhabdoid tumors, epithelioid sarcoma and renal medullary carcinoma.

For more detailed information on this trial, please visit: