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PTEN/MMAC1 gene mutation is a rare event in soft tissue sarcomas without specific balanced translocations
Tsuyoshi Saito1, Yoshinao Oda, Ken-ichi Kawaguchi
1Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Abstract:
The tumor suppressor gene PTEN/MMAC1 was identified on chromosome 10q23.3, which is homozygously deleted in many human malignancies. The loss of chromosome 10q was also frequently reported in some types of soft tissue sarcomas. Our study was designed to investigate the frequency of PTEN/MMAC1 gene mutation and to evaluate the role of the PTEN/MMAC1 gene in the tumorigenesis of soft tissue sarcomas without specific balanced translocations. We analyzed 51 cases of soft tissue sarcomas without specific balanced translocations for PTEN/MMAC1 mutations by polymerase chain reaction-single strand conformation polymorphism and direct sequencing. Mutations in the PTEN/MMAC1 gene were found in only 2 cases (3.9%). Both tumors with PTEN/MMAC1 mutation were leiomyosarcomas arising from the retroperitoneum and inferior vena cava, respectively. Two of 3 leiomyosarcomas arising from the intra-abdominal cavity examined harbored mutations of this tumor suppressor gene. This result suggests that leiomyosarcomas derived from the intra-abdominal cavity might have different tumorigenesis from those of an extremity or the trunk, from the viewpoint of PTEN/MMAC1 mutation, although PTEN/MMAC1 gene mutations are rare event in these soft tissue sarcomas.
Insights
Tumor suppressor gene PTEN/MMAC1 mutations are rare in soft tissue sarcomas. However, mutations were observed in intra-abdominal leiomyosarcomas, suggesting distinct tumor development pathways for this subtype.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- The PTEN/MMAC1 tumor suppressor gene is located on chromosome 10q23.3 and frequently deleted in malignancies.
- Loss of chromosome 10q is observed in soft tissue sarcomas, indicating PTEN/MMAC1's potential role.
Purpose of the Study:
- To determine the frequency of PTEN/MMAC1 gene mutations in soft tissue sarcomas.
- To evaluate the role of PTEN/MMAC1 in the tumorigenesis of soft tissue sarcomas lacking specific translocations.
Main Methods:
- Analysis of 51 soft tissue sarcoma cases without specific balanced translocations.
- PTEN/MMAC1 mutation detection using polymerase chain reaction-single strand conformation polymorphism and direct sequencing.
Main Results:
- PTEN/MMAC1 mutations were identified in 2 out of 51 cases (3.9%).
- Both mutated tumors were leiomyosarcomas, one from the retroperitoneum and one from the inferior vena cava.
- Two of three intra-abdominal leiomyosarcomas exhibited PTEN/MMAC1 mutations.
Conclusions:
- PTEN/MMAC1 gene mutations are infrequent in the studied soft tissue sarcomas.
- Intra-abdominal leiomyosarcomas may possess different tumorigenesis mechanisms compared to other subtypes, suggested by PTEN/MMAC1 mutation patterns.