TY - JOUR
T1 - PTEN and other tumor suppressor gene mutations as secondary genetic alterations in synovial sarcoma
AU - Saito, Tsuyoshi
AU - Oda, Yoshinao
AU - Kawaguchi, Ken Ichi
AU - Takahira, Tomonari
AU - Yamamoto, Hidetaka
AU - Tanaka, Kazuhiro
AU - Matsuda, Shuichi
AU - Sakamoto, Akio
AU - Iwamoto, Yukihide
AU - Tsuneyoshi, Masazumi
PY - 2004/5
Y1 - 2004/5
N2 - Synovial sarcomas (SS) consistently show a characteristic chromosomal translocation, t(X;18)(p11;q11), which usually leads to the formation of 2 chimeric fusion transcripts, SYT-SSX1 and -SSX2. A recent multi-institutional retrospective study revealed that the SYT-SSX fusion type emerged as the only independent significant factor for overall survival in cases of SS. The aims of this study were; i) to investigate the frequency of PTEN gene alteration, ii) to evaluate whether the mutation status in various tumor suppressor genes (TSG) is responsible for the clinical and histologic heterogeneity in SS. Forty-nine cases of SS were examined for the presence of PTEN gene mutation by polymerase chain reaction - single-strand conformation polymorphism followed by DNA direct sequencing. The obtained data was combined with those of previously reported TSG mutations such as p53, adenomatous polyposis coli, and E-cadherin genes. Follow-up was available for 44 patients, and survival analysis was performed according to the mutation status of these TSG. PTEN mutations were detected in 7 cases (14.3%), and all of these were monophasic tumors. More than half of the mutations detected were located in exon 9, which has been shown to play a less important role in PTEN functioning, and the PTEN mutation was not associated with patients' prognosis. Mutations in these TSG other than silent mutations were detected in 20 out of 49 cases (40.8%), although the mutation status in TSG was not associated with overall survival rate in patients with SS. Secondary genetic alterations in these TSG seem to have a less important prognostic impact on patients with SS.
AB - Synovial sarcomas (SS) consistently show a characteristic chromosomal translocation, t(X;18)(p11;q11), which usually leads to the formation of 2 chimeric fusion transcripts, SYT-SSX1 and -SSX2. A recent multi-institutional retrospective study revealed that the SYT-SSX fusion type emerged as the only independent significant factor for overall survival in cases of SS. The aims of this study were; i) to investigate the frequency of PTEN gene alteration, ii) to evaluate whether the mutation status in various tumor suppressor genes (TSG) is responsible for the clinical and histologic heterogeneity in SS. Forty-nine cases of SS were examined for the presence of PTEN gene mutation by polymerase chain reaction - single-strand conformation polymorphism followed by DNA direct sequencing. The obtained data was combined with those of previously reported TSG mutations such as p53, adenomatous polyposis coli, and E-cadherin genes. Follow-up was available for 44 patients, and survival analysis was performed according to the mutation status of these TSG. PTEN mutations were detected in 7 cases (14.3%), and all of these were monophasic tumors. More than half of the mutations detected were located in exon 9, which has been shown to play a less important role in PTEN functioning, and the PTEN mutation was not associated with patients' prognosis. Mutations in these TSG other than silent mutations were detected in 20 out of 49 cases (40.8%), although the mutation status in TSG was not associated with overall survival rate in patients with SS. Secondary genetic alterations in these TSG seem to have a less important prognostic impact on patients with SS.
UR - http://www.scopus.com/inward/record.url?scp=16544367838&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=16544367838&partnerID=8YFLogxK
U2 - 10.3892/or.11.5.1011
DO - 10.3892/or.11.5.1011
M3 - Article
C2 - 15069540
AN - SCOPUS:16544367838
VL - 11
SP - 1011
EP - 1015
JO - Oncology Reports
JF - Oncology Reports
SN - 1021-335X
IS - 5
ER -