Causes and Risk Factors of Chondrosarcoma

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Researchers have yet to discover an exact cause of chondrosarcoma but have found evidence that suggests genetics may play a role in its development. Several other risk factors have also been identified.

This article discusses the genetic component that drives chondrosarcoma and what risk factors are associated with the disease.

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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.

Can Genetic Mutations Predict Survival Rate for People With Chondrosarcoma?

While a genetic predisposition can be found in people with the disease and may be useful when investigating treatment options, the mutations cannot be used as a predictor of how likely a person is to survive after they have been diagnosed with chondrosarcoma.

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.

RNA and Chondrosarcoma

It’s thought that microRNA and mRNA (messenger RNA) can also dictate chondrosarcoma development by deactivating the body’s proteins that suppress the development of tumors.

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.

Age and Chondrosarcoma

As with many other types of cancer, age is also a factor. The most common age range in which people are diagnosed is 30–70, with cases being extremely rare in those under the age of 21.


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.

Frequently Asked Questions

  • What is the most notable risk factor of chondrosarcoma?

    While all the risk factors associated with the disease hold their own weight, there is one that seems to come with the most risk: Maffucci syndrome, which is a combinational condition that develops because a person has groups of both noncancerous angiomas and enchondromas. People with Maffucci syndrome are at an increased risk of developing chondrosarcoma by 53%.

  • Is there anything I can do to reduce my risk?

    Since the risks associated with chondrosarcoma are mainly based on genetics, there is not much you can do to decrease these risks. Age, which is also a risk factor, is also unavoidable. The best thing you can do is live as healthy as possible and get regular health screenings. This way, if symptoms ever do appear, you can catch chondrosarcoma early. Chondrosarcoma has a high survival rate if caught early.

3 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
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  2. Chow WA. Chondrosarcoma: biology, genetics, and epigenetics. F1000Res. 2018;7:F1000 Faculty Rev-1826. doi:10.12688/f1000research.15953.1

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By Angelica Bottaro
Angelica Bottaro is a professional freelance writer with over 5 years of experience. She has been educated in both psychology and journalism, and her dual education has given her the research and writing skills needed to deliver sound and engaging content in the health space.