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Somatic mutation of PTEN in bladder carcinoma
J S Aveyard1, A Skilleter, T Habuchi
1ICRF Cancer Medicine Research Unit, St James's University Hospital, Leeds, UK.
British Journal of Cancer
|June 9, 1999
Summary
The tumor suppressor gene PTEN is altered in some bladder cancers. Loss of heterozygosity (LOH) and homozygous deletions of PTEN were observed, suggesting its role in bladder tumor development.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- The PTEN/MMAC1 tumor suppressor gene is frequently altered in various cancers, including glioma, breast, and prostate cancer.
- The 10q23 chromosomal region, where PTEN is located, exhibits loss of heterozygosity (LOH) in bladder cancer.
Purpose of the Study:
- To investigate the involvement of the PTEN gene in bladder cancer development.
- To screen bladder tumors for LOH, mutations, and homozygous deletions of PTEN.
Main Methods:
- Screening of 123 bladder tumors for LOH in the PTEN region.
- Analysis of 63 muscle-invasive bladder tumors for PTEN mutations using single-strand conformation polymorphism (SSCP) and for homozygous deletions via quantitative polymerase chain reaction (PCR).
- Examination of 15 bladder tumor cell lines for PTEN gene alterations.
Main Results:
- LOH in the PTEN region was detected in 32% of muscle-invasive bladder tumors and 6.6% of non-invasive tumors.
- Two homozygous deletions of PTEN were identified in muscle-invasive tumors, and three in bladder tumor cell lines. No PTEN mutations were found in muscle-invasive tumors or cell lines.
- The frequency of PTEN mutations in tumors with 10q23 LOH was low.
Conclusions:
- PTEN alterations, including LOH and homozygous deletions, are implicated in the development of some bladder tumors.
- The low mutation rate of the retained PTEN allele suggests alternative inactivation mechanisms, such as hemizygosity or involvement of other 10q23 genes.