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(American Journal of Pathology. 1998;153:1807-1812.)
© 1998 American Society for Investigative Pathology

Regular Articles

Detection of SYT-SSX Fusion Transcripts in Synovial Sarcoma by Reverse Transcription-Polymerase Chain Reaction Using Archival Paraffin-Embedded Tissues

Seiji Tsuji* , Masanori Hisaoka* , Yosuke Morimitsu* , Hiroshi Hashimoto* , Shohei Shimajiri , Setsuro Komiya , Masahiro Ushijima§ and Toshitaka Nakamura¶

From the Departments of Pathology and Oncology,* Pathology and Cell Biology, and Orthopedic Surgery,¶ School of Medicine, University of Occupational and Environmental Health, Kitakyushu, the Department of Orthopedic Surgery, Kurume University School of Medicine, Kurume, and the Department of Orthopedic Surgery,§ Kitakyushu Municipal Hospital, Kitakyushu, Japan

The reciprocal translocation t(X;18)(p11;q11) is known to be highly characteristic of synovial sarcoma, and its consequence, an SYT-SSX fusion gene, is expected to be a diagnostic molecular marker. In this study, we conducted a reverse transcription-polymerase chain reaction-based assay to detect the SYT-SSX fusion gene transcripts using archival formalin-fixed, paraffin-embedded tumor specimens from a series of 32 synovial sarcoma cases including 6 tumors found in unusual anatomical sites. The SYT-SSX fusion transcripts could be detected in 30 of 32 paraffin-embedded specimens (94%). A subsequent sequence analysis using the polymerase chain reaction products confirmed that the detected messages were derived from either the SYT-SSX1 (22 cases) or SYT-SSX2 (8 cases) fusion gene. Of 23 SYT-SSX-positive monophasic tumors, 16 tumors had an SYT-SSX1 fusion transcript. Fusion transcripts were detectable in all the 7 biphasic tumors analysed, one of which had an SYT-SSX2 fusion transcript. All of the six tumors at unusual locations (lung; 3, metastasis to the abdominal cavity from a tumor of retroperitoneal origin; 1, sacral region; 1, iliopsoas muscle; 1) contained detectable messages. Our results indicate that this molecular assay can be applied to archival formalin-fixed, paraffin-embedded tumor tissues as a feasible and reliable molecular technique for the diagnosis of synovial sarcoma.

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