Related Experiment Video

Updated: Oct 10, 2026

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor
09:33

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

Published on: August 25, 2023

Mutational alterations of the p16CDKN2A tumor suppressor gene have low incidence in mesenchymal chondrosarcoma

D K Bae1, Y K Park, S G Chi

  • 1Department of Orthopedic Surgery, College of Medicine, Kyung Hee University, Seoul, Korea.

Oncology Research
|November 4, 2000
PubMed

Insights

Alterations in the cyclin-dependent kinase inhibitors (CDKIs) p16CDKN2A gene are uncommon in mesenchymal chondrosarcoma. This study suggests p16CDKN2A gene alterations do not significantly contribute to the development of this rare bone cancer.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Mutational inactivation of cyclin-dependent kinase inhibitors (CDKIs), specifically the p16INK4A/MTS1 tumor suppressor gene, is implicated in various human cancers.
  • Understanding the role of CDKIs in rare tumors like mesenchymal chondrosarcoma is crucial for identifying potential therapeutic targets.

Purpose of the Study:

  • To investigate the frequency and nature of cyclin-dependent kinase inhibitor (CDKI) gene alterations in human mesenchymal chondrosarcoma.
  • To determine the potential involvement of p16CDKN2A gene alterations in the tumorigenesis of mesenchymal chondrosarcoma.

Main Methods:

  • Quantitative DNA/PCR and PCR-SSCP analyses were employed to examine alterations in CDKIs.
  • The study analyzed 33 human mesenchymal chondrosarcoma tissue specimens.
  • SSCP analysis covered the entire coding region, including exons 1, 2, and 3 of the p16CDKN2A gene.

Main Results:

  • Abnormally low levels of p16CDKN2A amplification were detected in 7 out of 33 (21.2%) specimens, indicating potential allelic deletion.
  • No altered SSCP patterns, suggesting point mutations, were observed across the analyzed p16CDKN2A gene regions.
  • The overall incidence of genetic alterations in the p16CDKN2A gene was found to be low in mesenchymal chondrosarcoma.

Conclusions:

  • The study concludes that alterations of the p16CDKN2A gene occur infrequently in mesenchymal chondrosarcoma.
  • The findings suggest that p16CDKN2A gene alterations do not play a significant role in the tumorigenesis of mesenchymal chondrosarcoma.

More Related Videos

Induction of Mesenchymal-Epithelial Transitions in Sarcoma Cells11:42

Induction of Mesenchymal-Epithelial Transitions in Sarcoma Cells

Published on: April 7, 2017

Related Concept Videos

Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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,...