[Diagnostic value of SYT-SSX fusion gene detection by fluorescence in-situ hybridization for synovial sarcoma].
Yan Sun, Bao Sun, Yan Liu, Shi Wu Zhang, Xiu Zhao, Jian Wang, Xi Shan Hao
Abstract
Yan Sun, Bao Sun, Yan Liu, Shi Wu Zhang, Xiu Zhao, Jian Wang, Xi Shan Hao
Abstract
OBJECTIVE: To establish a method of SYT-SSX fusion gene detection by FISH and to explore its diagnostic value for synovial sarcoma. METHODS: The presence of SYT-SSX fusion gene was determined by FISH using a tissue microarray containing 62 known synovial sarcomas, 60 non-synovial sarcomas and 133 equivocal synovial sarcomas. FISH results were compared with those of RT-PCR published previously. RESULTS: Overall, 96.9% (247/255) of the cases were successfully analyzed by FISH. The sensitivity of FISH for known synovial sarcomas was 96.7% (58/60), and the specificity for the non-synovial sarcoma was 100% (59/59). Moreover, SYT-SSX gene fusion was detected in 78.1% (100/128) of the equivocal synovial sarcomas. The concordance rate between FISH and RT-PCR was 83.6% (102/122) in those equivocal synovial sarcomas, and overall 79.7% (106/133) of these cases were confirmed as synovial sarcomas either by RT-PCR or by FISH. CONCLUSIONS: The sensitivity and specificity of FISH detection of SYT-SSX fusion gene are high. FISH and RT-PCR are complementary to each other in the confirmation of synovial sarcomas, particularly those questionable cases.
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OBJECTIVE: To establish a method of SYT-SSX fusion gene detection by FISH and to explore its diagnostic value for synovial sarcoma. METHODS: The presence of SYT-SSX fusion gene was determined by FISH using a tissue microarray containing 62 known synovial sarcomas, 60 non-synovial sarcomas and 133 equivocal synovial sarcomas. FISH results were compared with those of RT-PCR published previously. RESULTS: Overall, 96.9% (247/255) of the cases were successfully analyzed by FISH. The sensitivity of FISH for known synovial sarcomas was 96.7% (58/60), and the specificity for the non-synovial sarcoma was 100% (59/59). Moreover, SYT-SSX gene fusion was detected in 78.1% (100/128) of the equivocal synovial sarcomas. The concordance rate between FISH and RT-PCR was 83.6% (102/122) in those equivocal synovial sarcomas, and overall 79.7% (106/133) of these cases were confirmed as synovial sarcomas either by RT-PCR or by FISH. CONCLUSIONS: The sensitivity and specificity of FISH detection of SYT-SSX fusion gene are high. FISH and RT-PCR are complementary to each other in the confirmation of synovial sarcomas, particularly those questionable cases.
Key concepts: Synovial sarcoma, Fusion gene, Fluorescence in situ hybridization, Fish <Actinopterygii>, Concordance, Pathology, Sarcoma, Immunohistochemistry