Genotypic analysis of tumor suppressor genes PTEN/MMAC1 and p53 in head and neck squamous cell carcinomas
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Y C Henderson1, E Wang, G L Clayman
1Department of Head and Neck Surgery, The University of Texas M.D. Anderson Cancer Center, Houston 77030, USA.
Objectives:
Tumor suppressor gene mutations in both p53 and PTEN/MMAC1 genomic DNA have been detected in many types of cancer. The purpose of this study was to investigate the presence and importance of PTEN/MMAC1 mutations in squamous cell carcinomas.
Methods:
Exons of each gene were amplified after polymerase chain reaction (PCR) using genomic DNA derived from cell lines of squamous cell carcinoma of the head and neck (SCCHN) and snap-frozen biopsy specimens from primary established head and neck tumors. The amplified and purified DNA was then sequenced directly.
Result:
As anticipated, point mutations of the p53 gene were found in 80% of cell lines examined. A single base mutation in codon 151 was found in six of 10 cell lines studied. PTEN/MMAC1 gene mutations were found in neither the cell lines tested nor the tumor biopsy samples.
Conclusion:
This study, as well as a large volume of data, confirms that mutations of the p53 gene are frequent events in head and neck cancer cell lines. Although PTEN/MMAC1 gene mutations have been found in a variety of carcinomas, this gene was not found to be mutated in SCCHN cell lines or in primary squamous cell carcinomas of the head and neck. This information is useful for further studies of mutations in these cell lines.
Insights
p53 gene mutations are common in head and neck squamous cell carcinoma (SCCHN). However, this study found no PTEN/MMAC1 gene mutations in SCCHN cell lines or tumors, suggesting PTEN/MMAC1 is not a key driver in this cancer type.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Tumor suppressor gene mutations, including p53 and PTEN/MMAC1, are prevalent in various cancers.
- Understanding these mutations is crucial for cancer research and therapeutic development.
Purpose of the Study:
- To investigate the presence and significance of PTEN/MMAC1 gene mutations in squamous cell carcinomas.
- To evaluate the mutation status of PTEN/MMAC1 in head and neck squamous cell carcinoma (SCCHN).
Main Methods:
- Genomic DNA was extracted from SCCHN cell lines and primary tumor biopsy specimens.
- Exons of p53 and PTEN/MMAC1 genes were amplified using polymerase chain reaction (PCR).
- Amplified DNA was directly sequenced to identify mutations.
Main Results:
- Consistent with expectations, p53 gene mutations were identified in 80% of the examined SCCHN cell lines.
- A specific single base mutation in codon 151 of p53 was observed in six out of 10 cell lines.
- No PTEN/MMAC1 gene mutations were detected in either the SCCHN cell lines or the primary tumor samples.
Conclusions:
- This study confirms that p53 gene mutations are frequent events in head and neck cancer.
- The PTEN/MMAC1 gene, despite being mutated in other carcinomas, showed no mutations in SCCHN cell lines or primary tumors.
- These findings contribute valuable information for future research on gene mutations in SCCHN.
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