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Genetics Home Reference: your guide to understanding genetic conditions
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Chordoma

Reviewed January 2012

What is chordoma?

A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs.

Approximately half of all chordomas occur at the base of the spine (sacrum), about one third occur in the base of the skull (occiput), and most of the rest occur in the tailbone (coccyx). As the chordoma grows, it puts pressure on the adjacent areas of the brain or spinal cord, leading to the signs and symptoms of the disorder. A chordoma anywhere along the spine may cause pain, weakness, or numbness in the back, arms, or legs. A chordoma at the base of the skull (occipital chordoma) may lead to double vision (diplopia) and headaches. A chordoma that occurs in the tailbone (coccygeal chordoma) may result in a lump large enough to be felt through the skin and may cause problems with bladder or bowel function.

Chordomas typically occur in adults between ages 40 and 70. About 5 percent of chordomas are diagnosed in children. For reasons that are unclear, males are affected about twice as often as females.

How common is chordoma?

Chordomas are rare, occurring in approximately 1 per million individuals each year. Chordomas comprise fewer than 1 percent of tumors affecting the brain and spinal cord.

What genes are related to chordoma?

Changes in the T gene have been associated with chordoma. An inherited duplication of the T gene identified in a few families is associated with an increased risk of developing a chordoma. Duplications or increases in activity (expression) of the T gene have also been identified in people with chordoma who have no history of the disorder in their family. In these individuals, the changes occur only in the tumor cells and are not inherited.

The T gene provides instructions for making a protein called brachyury. Brachyury is a member of a protein family called T-box proteins, which play critical roles during embryonic development. T-box proteins regulate the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, T-box proteins are called transcription factors.

The brachyury protein is especially important for the early development of the spine. In human embryos, a structure called the notochord is the precursor of the spinal column. The notochord disappears before birth, but in a small percentage of individuals, some of its cells remain in the base of the skull or in the spine. In rare cases these cells begin to grow and divide uncontrollably, invading the nearby bone and soft tissue and resulting in the development of a chordoma.

Duplications and increases in expression of the T gene both result in the production of excess brachyury protein. The specific mechanism by which excess brachyury protein contributes to the development of chordomas is unclear. Some people with chordoma do not have changes in the T gene, and the cause of the disorder in these individuals is unknown.

Related Gene(s)

Changes in this gene are associated with chordoma.

  • T

How do people inherit chordoma?

When development of a chordoma is associated with a duplication of the T gene inherited from a parent, one copy of the altered gene in each cell is sufficient to increase the risk of the disorder, which is an inheritance pattern called autosomal dominant. People with this duplication inherit an increased risk of this condition, not the condition itself.

Other cases of chordoma are sporadic, which means they occur in people with no history of the condition in their family.

Where can I find information about diagnosis or management of chordoma?

These resources address the diagnosis or management of chordoma and may include treatment providers.

  • Duke Spine Center (http://www.dukemedicine.org/treatments/cancer/spine-cancer)
  • Genetic Testing Registry: Chordoma (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0008487)
  • Massachusetts General Hospital (http://www2.massgeneral.org/chordoma/aboutchordoma.htm)

You might also find information on the diagnosis or management of chordoma in Educational resources (http://ghr.nlm.nih.gov/condition/chordoma/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/chordoma/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about chordoma?

You may find the following resources about chordoma helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What if I still have specific questions about chordoma?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding chordoma?

autosomal ; autosomal dominant ; cancer ; cell ; diplopia ; DNA ; double vision ; duplication ; embryonic ; gene ; inherit ; inheritance ; inheritance pattern ; inherited ; precursor ; protein ; sacrum ; soft tissue ; sporadic ; tissue ; transcription ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Casali PG, Stacchiotti S, Sangalli C, Olmi P, Gronchi A. Chordoma. Curr Opin Oncol. 2007 Jul;19(4):367-70. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17545801?dopt=Abstract)
  • Chugh R, Tawbi H, Lucas DR, Biermann JS, Schuetze SM, Baker LH. Chordoma: the nonsarcoma primary bone tumor. Oncologist. 2007 Nov;12(11):1344-50. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18055855?dopt=Abstract)
  • Presneau N, Shalaby A, Ye H, Pillay N, Halai D, Idowu B, Tirabosco R, Whitwell D, Jacques TS, Kindblom LG, Brüderlein S, Möller P, Leithner A, Liegl B, Amary FM, Athanasou NN, Hogendoorn PC, Mertens F, Szuhai K, Flanagan AM. Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study. J Pathol. 2011 Feb;223(3):327-35. doi: 10.1002/path.2816. Epub 2010 Nov 24. (http://www.ncbi.nlm.nih.gov/pubmed/21171078?dopt=Abstract)
  • Sciubba DM, Chi JH, Rhines LD, Gokaslan ZL. Chordoma of the spinal column. Neurosurg Clin N Am. 2008 Jan;19(1):5-15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18156043?dopt=Abstract)
  • Shalaby A, Presneau N, Ye H, Halai D, Berisha F, Idowu B, Leithner A, Liegl B, Briggs TR, Bacsi K, Kindblom LG, Athanasou N, Amary MF, Hogendoorn PC, Tirabosco R, Flanagan AM. The role of epidermal growth factor receptor in chordoma pathogenesis: a potential therapeutic target. J Pathol. 2011 Feb;223(3):336-46. doi: 10.1002/path.2818. Epub 2010 Dec 10. (http://www.ncbi.nlm.nih.gov/pubmed/21171079?dopt=Abstract)
  • Vujovic S, Henderson S, Presneau N, Odell E, Jacques TS, Tirabosco R, Boshoff C, Flanagan AM. Brachyury, a crucial regulator of notochordal development, is a novel biomarker for chordomas. J Pathol. 2006 Jun;209(2):157-65. (http://www.ncbi.nlm.nih.gov/pubmed/16538613?dopt=Abstract)
  • Yang XR, Ng D, Alcorta DA, Liebsch NJ, Sheridan E, Li S, Goldstein AM, Parry DM, Kelley MJ. T (brachyury) gene duplication confers major susceptibility to familial chordoma. Nat Genet. 2009 Nov;41(11):1176-8. doi: 10.1038/ng.454. Epub 2009 Oct 4. (http://www.ncbi.nlm.nih.gov/pubmed/19801981?dopt=Abstract)
  • Yoneoka Y, Tsumanuma I, Fukuda M, Tamura T, Morii K, Tanaka R, Fujii Y. Cranial base chordoma--long term outcome and review of the literature. Acta Neurochir (Wien). 2008 Aug;150(8):773-8; discussion 778. doi: 10.1007/s00701-008-1600-3. Epub 2008 Jun 12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18548191?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2012
Published: October 27, 2014