Detection of SYT-SSX fusion gene in peripheral blood from a patient with synovial sarcoma

This report describes a case involving a 22-year-old pregnant woman with synovial sarcoma in the thigh. The patient recognized an elastic hard mass accompanied by a dull pain in the anteromedial portion of the right thigh. Magnetic resonance imaging delineated a deep soft-tissue mass measuring 9 x 7 x 6 cm. Histologic diagnosis of poorly differentiated synovial sarcoma was made based the results of an open biopsy. In this patient, the SYT-SSX fusion gene transcript was detected by nested polymerase chain reaction (PCR) in the peripheral blood collected before biopsy. Two months after wide local resection of the tumor, multiple lung metastases developed. This is the first reported case in which tumor cells were detected by nested PCR in the peripheral blood of a patient with synovial sarcoma. These findings suggest that circulating tumor cells should be monitored because they may serve as a prognostic indicator for synovial sarcoma.