Related Experiment Video
Updated: Oct 4, 2026
Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR
Published on: February 5, 2018
Low incidence of genetic alterations of the p16CDKN2a in clear cell chondrosarcoma
1Department of Pathology, College of Medicine, Kyung Hee University Hospital, Seoul 130-702, Korea. ykpark@khmc.or.kr
Abstract:
Mutational inactivation of the cyclin-dependent kinase inhibitors (CDKIs) (p16CDKN2a) tumor suppressor gene has been found in a variety of human tumor types. To investigate the involvement of CDKI abnormality in clear cell chondrosarcoma, alterations of CDKIs were examined in clear cell chondrosarcoma tissues using a quantitative DNA/PCR, PCR-SSCP. Two of 38 specimens (5.2%) we analyzed showed abnormally low levels of p16CDKN2a amplification, suggesting that the allelic deletion of the gene might be low frequent event in progression of this tumor. For detection of subtle sequence alterations such as point mutations, we performed SSCP analysis of the entire coding region of the p16CDKN2a gene. No altered SSCP patterns were found in 38 clear cell chondrosarcoma specimens. This study reflects the very low incidence of genetic alterations of the p16CDKN2a gene in clear cell chondrosarcoma. Therefore, we conclude that the alteration of the p16CDKN2a gene is not involved significantly in the development of clear cell chondrosarcoma.
Insights
Genetic alterations of the p16CDKN2a tumor suppressor gene are rare in clear cell chondrosarcoma. This study found no significant involvement of p16CDKN2a gene alterations in the development of this specific cancer.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Cyclin-dependent kinase inhibitors (CDKIs), including p16CDKN2a, are crucial tumor suppressor genes.
- Mutational inactivation of CDKIs is implicated in various human cancers.
- The role of CDKI abnormalities in clear cell chondrosarcoma remains largely unexplored.
Purpose of the Study:
- To investigate the frequency and significance of p16CDKN2a gene alterations in clear cell chondrosarcoma.
- To determine if p16CDKN2a gene abnormalities contribute to the development of clear cell chondrosarcoma.
Main Methods:
- Quantitative DNA/PCR was used to assess p16CDKN2a gene amplification levels.
- PCR-SSCP (Single-Strand Conformation Polymorphism) analysis was employed to detect sequence alterations.
- 38 clear cell chondrosarcoma tissue specimens were analyzed.
Main Results:
- Abnormally low p16CDKN2a amplification was detected in only 2 out of 38 specimens (5.2%), suggesting low-frequency allelic deletion.
- No altered SSCP patterns were observed across the entire coding region of the p16CDKN2a gene in any specimen.
- The study indicates a very low incidence of genetic alterations involving the p16CDKN2a gene in clear cell chondrosarcoma.
Conclusions:
- Alterations in the p16CDKN2a gene are infrequent in clear cell chondrosarcoma.
- The p16CDKN2a gene is not significantly involved in the pathogenesis of clear cell chondrosarcoma.
- Further research may explore other genetic factors contributing to clear cell chondrosarcoma development.
Related Concept Videos
02:23Abnormal Proliferation
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...