This article discusses the genetic component that drives chondrosarcoma and what risk factors are associated with the disease.
Genetics
Genetic mutations are changes that occur in a person’s genetic sequence. Certain genetic mutations occur in some people that may make them more susceptible to developing chondrosarcoma at some point in their lifetimes.
Researchers have investigated certain DNA mutations that occur in people with chondrosarcoma and have found that specific gene mutations in genes IDH1 and IDH2 are involved in its development.
These genes are known as isocitrate dehydrogenase genes, which are genes that provide the key instructions needed for the body to create enzymes known as isocitrate dehydrogenase. These enzymes play a role in oxidation reactions that form carbon dioxide within the body. In particular, the reaction that develops from the enzymes helps to stimulate the production of protein and reduce the loss of protein within the muscles.
Other genetic alterations can also occur that are correlated with the increased risk of chondrosarcoma in older adults. Mutations in COL2A1 and deletions of CDKN2A within the DNA, specifically, have been shown to play a role in chondrosarcoma development in the following ways:
COL1A1 is tasked with providing information to create the collagen that is used to form cartilage. CDKN2A provides the instructions needed to make various types of proteins.
According to research, certain other pathways within the body may be negatively affected by gene mutations and, thus, encourage the growth of chondrosarcoma tumors. These pathways include:
The Hedgehog pathway: The Hedgehog pathway is designed to send information to embryonic cells, which are stem cells that are able to create any other type of human cell they need to. They are made from blastocysts, which are cells found in early human embryos. The development and division of chondrosarcoma cells are highly influenced by this pathway, as it can help the cancer cells to divide and grow in the body. Tumor suppressor pathways: Tumor suppressor pathways are designed to send information that actively stops tumors from growing. These pathways are often negatively affected in people with chondrosarcoma. PI3K-Akt-mTOR pathway: The PI3K-Akt-mTOR pathway plays a vital role in cell cycle regulation. It is highly connected to the development of all types of cancer, including chondrosarcoma.
Risk Factors
Along with genetic predisposition, several other risk factors are involved in the onset of chondrosarcoma. These risk factors can include:
Osteochondromas: Osteochondromas are cartilage overgrowths that can occur at the end of the growth plate of the bones. Roughly 1% of cases have the potential to turn into chondrosarcoma. Enchondromas: Enchondromas are noncancerous (benign) tumors that develop within the hollow parts of the bone that house bone marrow. They are very similar to chondrosarcomas in presentation and are also correlated with mutations in the IDH1 and IDH2 genes. Ollier disease: Ollier disease is a group or collection of enchondromas. According to research, people with Ollier disease are 40% more likely to develop chondrosarcoma than those without Ollier disease. Maffucci syndrome: Maffucci syndrome occurs when a person has both a collection of enchondromas as well as multiple angiomas, which are noncancerous tumors that are formed from blood vessels. People with Maffucci syndrome are at a 53% increased risk of developing chondrosarcoma.
Summary
Although the exact cause of chondrosarcoma isn’t known, research has shed light on various genetic factors that may influence it. Certain genetic mutations as well as issues with signaling pathways in the body can both put a person at higher risk of developing chondrosarcoma.
Other risk factors associated with the disease include other health conditions such as enchondromas, osteochondromas, Ollier disease, and Maffucci syndrome.
A Word From Verywell
Being aware of certain genetic predispositions may be helpful in determining your risk, but since there is little you can do to alter the mutations that have taken place in your genes, it will not help you avoid the cancer altogether. If you are at high risk for chondrosarcoma, try to live a healthy lifestyle in every other way you can to help with disease management.
