Synovial sarcoma, X breakpoint

Synovial sarcoma, X breakpoint (SSX) is a gene that is associated with the development of synovial sarcoma, a rare type of cancer that typically arises near the joints of the arm, neck, or leg.

Overview

The SSX gene family consists of several similar genes that are involved in the development of synovial sarcoma. These genes are located on the X chromosome, and their expression is typically restricted to the testis. However, in synovial sarcoma, the SSX genes are abnormally expressed due to a specific chromosomal translocation.

Chromosomal Translocation

In most cases of synovial sarcoma, a specific chromosomal translocation, t(X;18)(p11;q11), occurs. This translocation results in the fusion of the SSX gene on the X chromosome with the SYT gene on chromosome 18. The resulting SYT-SSX fusion gene is believed to play a key role in the development of synovial sarcoma.

Role in Cancer Development

The SYT-SSX fusion gene is thought to act as an oncogene, promoting the uncontrolled growth of cells that leads to the development of a tumor. The exact mechanism by which this occurs is not fully understood, but it is believed to involve the disruption of normal gene regulation processes.

Diagnosis and Treatment

The presence of the SYT-SSX fusion gene can be detected using molecular diagnostic techniques such as polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH). This can aid in the diagnosis of synovial sarcoma.

Treatment for synovial sarcoma typically involves surgery to remove the tumor, often followed by radiation therapy and/or chemotherapy. The prognosis for patients with synovial sarcoma varies depending on factors such as the size and location of the tumor, and whether the cancer has spread to other parts of the body.

See Also

• Synovial sarcoma
• Chromosomal translocation
• Oncogene