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Understanding chordoma

Chordoma is a rare type of cancer that occurs in the bones of the skull base and spine. It is diagnosed in just 1 in 1 million people every year.

What is chordoma?

Chordoma is part of a group of malignant bone and soft tissue tumors called sarcomas. Chordomas account for about 3 percent of all bone tumors and about 20 percent of primary spinal tumors. They are the most common tumor of the sacrum and cervical spine. A chordoma tumor usually grows slowly, often without symptoms at first, and then might cause symptoms for years before doctors find it.

Chordomas are complicated tumors to treat due to the involvement of critical structures such as the brainstem, spinal cord, and important nerves and arteries. They can also come back, or recur, after treatment — usually in the same place as the first tumor. This is called a local recurrence. In about 30 to 40 percent of patients, the tumor eventually spreads, or metastasizes, to other parts of the body.

Are there risk factors for chordoma? Is it hereditary?

There are no known environmental, dietary, or lifestyle risk factors for chordoma. The vast majority of chordomas occur at random and not as a direct result of an inherited genetic trait; however, there are several genetic factors associated with chordoma. For example, more than 95 percent of individuals with chordoma have a single-letter variation, called a SNP (“snip”), in the DNA sequence of a gene called brachyury. This SNP causes an increase in the risk of developing chordoma, but does not by itself cause chordoma. In fact, a large portion of the general population has this SNP, but individuals who have the SNP are still very unlikely to develop chordoma – the chances are less than two in a million. To learn more about the SNP and what it means for chordoma patients and family members, click here.

Familial chordoma
There are a handful of known cases where multiple members of the same family are affected by chordoma. This indicates that in these very rare instances, a strong genetic predisposition for chordoma can be inherited. It is known that some of the families with familial chordoma have an extra copy of the brachyury gene, but currently, there is no available test for the presence of extra copies of the gene. The National Cancer Institute is currently conducting a genetics study to identify additional hereditary causes of chordoma. Click here for details on participating in this study.

Tuberous Sclerosis Complex
Chordomas have been reported at a higher incidence in children with the genetic disease Tuberous Sclerosis Complex (TSC). Changes in either of two genes involved in Tuberous Sclerosis Complex (TSC1 and TSC2) can cause a predisposition to developing chordoma.

We're here to help

The Chordoma Foundation is a resource for anyone affected by chordoma. We're here to help you understand the disease, learn about how it's treated, find qualified doctors, and connect with others in the chordoma community.

Patient Navigation Service

Our free and confidential service connects you with a Patient Navigator who will be available to you at every step of your journey with chordoma, to help you get the best care possible.

Contact a Patient Navigator

Chordoma Connections

Our private online community, Chordoma Connections, is a place for chordoma patients and their loved ones to ask questions, share updates, learn about research advances, and connect with others around the world.

Join today

Treatment guidelines

Getting the right treatment for chordoma is critical for a good outcome. The Chordoma Global Consensus Group has developed guidelines for the way chordoma should be treated.

Read the guidelines

Expert Answers

Learn more about chordoma in these videos from our Expert Answers Series.

References and further reading

  1. Our glossary of commonly used terms can help you understand the medical and scientific terms you may hear when discussing your diagnosis with your care team.
  2. Stacchiotti S, Sommer J, Chordoma Global Consensus Group. Building a global consensus approach to chordoma: a position paper from the medical and patient community. Lancet Oncology. 2015 Feb;16(2):e71-83. doi: 10.1016/S1470-2045(14)71190-8
  3. Stacchiotti S, Gronchi A, Fossati P, et al. Best practices for the management of local-regional recurrent chordoma: a position paper by the Chordoma Global Consensus Group. Ann Oncol. 2017 Jun 1;28(6):1230-1242. doi: 10.1093/annonc/mdx054.
  4. Walcott BP, Nahed BV, Mohyeldin A, Coumans JV, Kahle KT, Ferreira MJ. Chordoma: current concepts, management, and future directions. Lancet Oncology. 2012 Feb;13(2):e69-76. doi: 10.1016/S1470-2045(11)70337-0.
  5. Diaz RJ, Cusimano MD. The biological basis for the modern treatment of chordoma. J Neurooncol. 2011 Sep;104(2):411-22. doi: 10.1007/s11060-011-0559-8. Epub 2011 Mar 8.
  6. Sciubba DM, Cheng JJ, Petteys RJ, Weber KL, Frassica DA, Gokaslan ZL. Chordoma of the sacrum and vertebral bodies. J Am Acad Orthop Surg. 2009 Nov;17(11):708-17.
  7. Koutourousiou M, Snyderman CH, Fernandez-Miranda J, Gardner PA. Skull base chordomas. Otolaryngol Clin North Am. 2011 Oct;44(5):1155-71. doi: 10.1016/j.otc.2011.06.002. Epub 2011 Jul 21.