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Vol 45(2011) N 5 p. 774-779; T.V. Kekeeva1,2*, A.A. Ryazantseva1, L.E. Zavalishina1, Y.Y. Andreeva1, O.V. Babenko2, D.V. Zaletaev2, G.A. Frank1 Analysis of SYT/SSX1 and SYT/SSX2 Fusion Genes in Synovial Sarcoma 1Herzen Oncological Research Institute, Moscow, 125284 Russia2Institute of Molecular Medicine, Sechenov Moscow Medical Academy, Moscow, 119992 Russia *kekeeva@online.ru Received - 2010-11-30; Accepted - 2011-02-02 t(X;18)(p11;q11) translocation is the genetic aberration specific for synovial sarcomas. It results in fusion of SYT and an SSX gene leading to production of a chimeric protein SYT/SSX. The expression analysis of SYT/SSX1 and SYT/SSX2 chimeric transcripts was performed in formalin-fixed soft tissue tumor specimens, and the diagnostic significance of immunohistochemistry and FISH and RT-PCR methods was compared. Chimeric transcripts were detected in 12 of 16 synovial sarcomas: seven SYT/SSX1 and five SYT/SSX2 fusion variants; by fluorescence in situ hybridization (FISH), translocation was found in 13 of 16 sarcoma cases. Since synovial sarcoma represents a diagnostically challenging group, genetic analysis of translocations and chimeric transcripts is an extremely useful confirmatory diagnostic tool providing higher sensitivity than immunohistochemical markers. synovial sarcoma, translocation, fusion gene |
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