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British Journal of Cancer (2001) 84, 1087–1094. doi:10.1054/bjoc.2000.1710 www.bjcancer.com
Published online 17 April 2001

Identification of a novel spliced variant of the SYT gene expressed in normal tissues and in synovial sarcoma

E Tamborini1, V Agus1, A Mezzelani1, C Riva1, G Sozzi2, A Azzarelli3, M A Pierotti2 and S Pilotti1

  1. 1Department of Pathology, Istituto Nazionale per lo Studio e la Cura dei Tumori, Via G. Venezian, Milano, 1 20133, Italy
  2. 2Department of Experimental Oncology, Istituto Nazionale per lo Studio e la Cura dei Tumori, Via G. Venezian, Milano, 1 20133, Italy
  3. 3Department of Musculo-Skeletal Surgery, Istituto Nazionale per lo Studio e la Cura dei Tumori, Via G. Venezian, Milano, 1 20133, Italy

Received 4 September 2000; Revised 9 January 2001; Accepted 11 January 2001

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Abstract

Synovial sarcoma (SS) is cytogenetically characterized by the translocation t(X;18)(p11.2-q11.2) generating a fusion between the SYT gene on chromosome 18 and one member of the SSX family gene (SSX1; SSX2; SSX4) on chromosome X. Here, we report for the first time that 2 forms of SYT mRNA are present in both normal tissues and SSs. By amplifying the full-length SYT cDNA of two SSs, we detected 2 bands, here designated N-SYT and I-SYT. The latter, previously undescribed, contains an in-frame insertion of 93 bp. Its sequencing revealed a 100% homology with the mouse SYT gene. These two SYT forms were present, although in different amounts, in all human normal tissues examined, including kidney, stomach, lung, colon, liver and synovia. Coexistence of N-SYT and I-SYT (both fused with SSX) was detected in a series of 59 SSs (35 monophasic and 24 biphasic) and in a SS cell line. A preliminary analysis of the differential expression levels of N-SYT and I-SYT in SSs revealed that the latter was consistently overexpressed, suggesting a role in SS pathogenesis. © 2001 Cancer Research Campaign

Keywords:

synovial sarcoma; fusion transcript; RT-PCR analysis; alternative splicing event

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