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Genetic and Rare Diseases Information Center (GARD)

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Synovial sarcoma

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What causes synovial sarcoma?

The exact cause of synovial sarcoma is not entirely understood; however, studies have indicated that genetic alterations may play a role in the formation of soft tissue sarcomas. In synovial sarcoma, a rearrangement in the chromosome material between chromosomes X and 18 is usually present. The characteristic chromosome translocation  t(X;18)(p11.2;q11.2) is present in nearly all synovial sarcomas. This rearrangement changes the position and function of genes, causing a fusion of genes referred to as a "fusion transcript." Patients have an abnormal fusion transcript involving two genes which creates a novel (new) gene. This important discovery has led to improvements in diagnosing this condition, and may lead to newer treatments in the future.[1]
Last updated: 7/11/2011

  1. Synovial sarcoma. Children's Hospital Boston. Accessed 7/11/2011.