APC mutations in synovial sarcoma

• Published in: The Journal of pathology Vol. 196; no. 4; pp. 445 - 449
• Main Authors: Saito, Tsuyoshi, Oda, Yoshinao, Sakamoto, Akio, Kawaguchi, Ken-ichi, Tanaka, Kazuhiro, Matsuda, Shuichi, Tamiya, Sadafumi, Iwamoto, Yukihide, Tsuneyoshi, Masazumi
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.04.2002; Wiley
• Subjects: Adult; APC; beta Catenin; Biological and medical sciences; Child; Cytoskeletal Proteins - genetics; Cytoskeletal Proteins - metabolism; Dermatology; DNA Mutational Analysis; DNA, Neoplasm - genetics; Female; Follow-Up Studies; Genes, APC; Humans; Male; Medical sciences; Middle Aged; mutation; Mutation, Missense; Neoplasm Proteins - genetics; Neoplasm Proteins - metabolism; Polymorphism, Single-Stranded Conformational; Prognosis; Sarcoma, Synovial - genetics; Sarcoma, Synovial - metabolism; Survival Rate; synovial sarcoma; Trans-Activators; Tumors of the skin and soft tissue. Premalignant lesions; β-catenin; Human; Prognosis; Sarcoma; Synovial sarcoma; Cell adhesion molecule; Malignant tumor; Adhesion; Polymerase chain reaction; Pathology; Soft tissue; Mutation; Molecular biology; Catenin; Tumor suppressor gene
• ISSN: 0022-3417; 1096-9896
• DOI: 10.1002/path.1066

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. Copyright © 2002 John Wiley & Sons, Ltd.