Causes and Risk Factors of Chordoma

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Chordomas are rare, cancerous tumors that form on the spine and the base of the skull. They develop from leftover cells of embryonic tissue known as notochord, which helps form the spine before birth. Experts don't know exactly what causes these cells to turn into chordomas, but genetics are thought to play a role in certain cases.

This article discusses the potential causes of chordoma and the research being conducted to know more.

X-ray picture of the cervical spine of a man in two projections in full view and profile

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Common Causes

The exact cause of chordoma is unknown, and many cases are thought to occur randomly. But what researchers do know is that these tumors develop from leftover cells of a tissue known as notochord.

During the growth process of a human embryo during pregnancy, notochord tissue helps develop the baby's spine. Usually, the notochord disappears before the baby is born, but sometimes notochord cells are left behind in the spine and the skull.

There are a few working theories that researchers have about the underlying causes of chordoma.

Genetic Abnormalities

Researchers have found evidence that certain gene mutations (or DNA changes) are connected to an increased risk of developing chordoma. Sometimes, these gene changes are inherited and found in families. But more often, these genetic changes happen randomly, meaning no one in your family has to have chordoma for you to develop it.

Genetic Conditions

People—particularly children—who have a rare genetic condition causing noncancerous tumors known as tuberous sclerosis appear to have an increased risk of developing chordoma. More studies are needed to take a closer look at the connection between the two diseases.


There is some current scientific evidence to suggest that specific gene mutations (abnormal changes in a person's genes) may be involved in the development of chordoma.


A gene known as the brachyury (TBXT) gene is believed to play a part in chordoma development. Most people who have a chordoma have an inherited duplication of this gene.

The TBXT gene helps control how cells in the body function during human development, specifically the notochord and spinal development. Uncontrolled growth of these cells leads to the formation of a chordoma.

Familial and Non-Familial Chordomas

Some people have a family member who also has chordoma, but most people do not have a family link. Researchers generally separate these cases into two categories:

  • Familial chordoma: When chordoma develops in multiple members of the same family, it's known as familial chordoma. In these cases, chordoma is inherited in what's known as an autosomal dominant pattern. This means that a copy of the affected gene inherited from one parent is enough to increase the risk of developing a chordoma.
  • Non-familial chordoma: When chordoma develops in a person without a family link, there is no clear underlying reason why these changes occur. Experts are currently looking into explanations for why chordoma is not inherited in most cases.

Both familial and non-familial chordomas have been linked to the TBXT gene, but here's where things get interesting. Some chordoma families that have been studied did not show a TBXT mutation. Experts think this suggests that there are mutations of other genes—or another unknown process in the body—that is causing the increased chordoma risk in these cases.

Other Risk Factors

A risk factor is something that can increase the chances of getting a certain disease. There are two main types of risk factors:

  • Non-modifiable risk factors are those that cannot be changed, such as age, sex, ancestry/ethnic background, and family history.
  • Modifiable risk factors are lifestyle factors that can be changed, like diet, exercise, and environmental exposure.

Unlike many other cancers, there are no known modifiable risk factors for chordoma. However, experts have identified some non-modifiable risk factors that many people diagnosed with chordoma have in common, including:

  • Age: Chordoma can develop at any age, but it's much more common in older adults than it is in younger age groups. People are most likely to be diagnosed between the ages of 40 and 70.
  • Sex: Chordomas occur twice as often in men as in women.
  • European ancestry: Chordoma incidence rates seem to be slightly higher in people with European ancestry, but studies with more diverse chordoma participants are needed to confirm this finding.


Chordoma is a very rare type of cancer, which makes it more difficult to research its underlying causes. What experts do know is that chordomas grow in the spine or the base of the skull from leftover cells that formed when a baby's spine started developing in the womb.

Many chordoma cases happen spontaneously, but research has pointed to a genetic link that's responsible for chordoma development in some people. Anyone can develop a chordoma, but they are typically more common in older adults, men, and those with a European ancestral background.

A Word From Verywell

Receiving a rare medical diagnosis is scary, and it can be even more discouraging where there is very little evidence regarding its cause. But you should know that researchers are still investigating the underlying causes of chordoma, and clinical trials are ongoing. Talk to your healthcare provider if you are interested in learning more about research progress into the causes of chordoma.

In the meantime, the Chordoma Foundation is a helpful resource that provides information on current clinical trials and offers international online support groups to help connect chordoma patients and families.

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9 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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