APC mutations in synovial sarcoma

Tsuyoshi Saito, Yoshinao Oda, Akio Sakamoto, Ken Ichi Kawaguchi, Kazuhiro Tanaka, Shuichi Matsuda, Sadafumi Tamiya, Yukihide Iwamoto, Masazumi Tsuneyoshi

Research output: Contribution to journalArticlepeer-review

44 Citations (Scopus)

Abstract

It has previously been demonstrated that accumulated β-catenin serves as an oncoprotein in synovial sarcoma and results in a poor overall survival rate, but the frequency of β-catenin mutation was quite low (8.2%). The present study, using essentially the same study group of cases, screened for genetic alterations in the mutation cluster region (MCR) of the APC gene in 49 cases of synovial sarcoma. SSCP analysis followed by DNA direct sequencing revealed five missense APC mutations in four cases of synovial sarcoma (8.2%). The mutational sites comprised one case each at codons 1299 (GCT to ACT, Ala to Thr), 1412 (GGA to AGA, Gly to Arg), and 1414 (GTA to ATA, Val to Ile), in addition to one case with double point mutations at codon 1398 (AGT to AAT, Ser to Asn) and at codon 1413 (ATG to ATA, Met to Ile), together with β-catenin mutation at codon 32 (GAC to TAC, Asp to Tyr). All four cases with APC mutations were histologically of the monophasic fibrous type and showed β-catenin accumulation. All three cases with APC mutations available for follow-up data were long survivors. This study provides the first evidence that APC mutations also occur in the field of sarcoma, especially in synovial sarcoma.

Original languageEnglish
Pages (from-to)445-449
Number of pages5
JournalJournal of Pathology
Volume196
Issue number4
DOIs
Publication statusPublished - 2002

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

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