Chordoma

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Categories:

Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases; Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases; Rare Cancers See More

This disease is grouped under:

Primary bone cancer

Summary Summary

A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull.^[1]^[2]

Chordomas typically present in adults between the ages of 40 and 70 and can occur anywhere along the spine. About half of all chordomas occur at the bottom of the spine (sacrum); about one third occur at the base of the skull. The remaining cases of chordomas form in the spine at the level of the neck, chest, or other parts of the lower back. Chordomas grow slowly, extending gradually into the surrounding bone and soft tissue. The actual symptoms depend on the location of the chordoma. A chordoma that occurs at the base of the spine may cause problems with bladder and bowel function. A chordoma at the base of the skull may lead to double vision and headaches.^[3]^[1]^[2]

In many cases, the cause of the chordoma remains unknown. Recent studies have shown that changes in the T gene have been associated with chordomas in a small set of families. In these families an inherited duplication of the T gene is associated with an increased risk of developing a chordoma. Duplications of the T gene have also been identified in people with chordoma who have no history of the tumor in their family, but in these cases the changes occur only in the tumor cells and are not inherited.^[2] The current treatment is often the surgical removal of the tumor, followed by radiotherapy.^[4]

Last updated: 8/11/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of the head	Abnormal head Head abnormality [ more ]	0000234
Abnormality of the vertebral column	Abnormal spine Abnormal vertebral column Abnormality of the spine [ more ]	0000925
Autosomal dominant inheritance		0000006
Chordoma		0010762

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2021

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Treatment Treatment

Chordomas are treated with surgery because these tumors continuously grow, although they grow slowly. If the chordoma is not removed, it may wear away the bone and adjacent soft tissue, causing destruction of surrounding tissues.^[4] The surgery aims to remove as much of the tumor as possible. The extent of the surgery, or the amount of tumor that may be removed, depends on the location of the tumor and how close it is to critical structures in the brain. In some cases, surgery is followed by radiation therapy to destroy any cancer cells that may remain after surgery, especially when the tumor cannot be removed completely.^[5] Several studies have shown that carbon ion therapy or proton beam radiation may control tumor growth and improve survival.^[6]

Radical resections of tumors (removal of all the tumor) with clean margins (with no remaining of the tumor) are associated with a longer period of being disease-free. If the tumor cannot be removed completely, because of the location and closeness to critical delicate structures, the addition of radiation therapy decreases the recurrence of the tumor. Frequent follow-up is needed because of the high rate of recurrence of these tumors. Tumor recurrence identified early is easier to treat. The time in between follow-up visits, including repeat MRI or CT scans, depends on the completeness of the resection. Because residual tumor shortens the recurrence time, patients with known or suspected residual tumor need to be evaluated more frequently.^[4]

Last updated: 8/11/2017

Prognosis Prognosis

The prognosis of chordomas generally depends on the success of the surgery removing the tumor. Although chordomas are usually slow-growing tumors, they are locally aggressive and tend to infiltrate into adjacent tissues and organs and to have multiple local recurrences (return of the tumor). Local recurrence results in tissue destruction and generally is the cause of death. Spreading to distant places of the body (metastases) are recognized but are uncommon. In general, a more complete removal with wide removal delays the time between surgery and eventual recurrence.^[4]

One studied showed that about 67% of the patients with chordomas of the base of the skull were alive after 5 years and in 58% of the patients the tumor did not get worse (progression-free survival) compared with the time of the diagnosis; about 57% of the patients were alive after 10 years and, in about 44%, the tumor did not get worse. The prognosis was better if more of the tumor was removed, the patient had radiation therapy, and there was no invasion of the nose and pharynx. A large study confirmed that both 5-year progression-free survival and overall survival of skull chordomas are better when there is a complete resection of the tumor.^[5]^[7]^[4]

Knowledge of the completeness of the tumor resection helps predict patient outcome in terms of the length of the time that the patient will not have any tumor recurrence, and in determination of the need for radiotherapy.

In general, the chordomas may recur after 3.8 years for radically resected tumors, 2.1 years for subtotal resection followed by radiation therapy, and 8 months for subtotal excision without radiation therapy. Due to the high rate of recurrences, frequent follow-ups are required because when the recurrence is identified early it is easier to treat.^[4]

Survival among pediatric patients who go through surgery was significantly longer than for adults and overall survival was longer.^[4]

Last updated: 8/11/2017

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Neuro-Oncology Branch Brain Tumor Clinic
National Cancer Institute
National Institutes of Health
Building 82, Room 225
Bethesda, MD 20892-8202
Toll-free: 1-866-251-9686
Telephone: 240-760-6030
Website: https://ccr.cancer.gov/Neuro-Oncology-Branch

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Chordoma. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Chordoma Foundation
PO Box 2127
Durham, NC 27702
Telephone: 919-809-6779
Fax: 866-367-3910
E-mail: information@chordoma.org
Website: http://www.chordomafoundation.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Chordoma. This website is maintained by the National Library of Medicine.
The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

In-Depth Information

MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Chordoma. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Three years ago, I was diagnosed with "Clivus of Chordoma." Since then, I have had four surgeries to remove as much of the tumor as possible, and I also went through a rigorous radiation therapy treatment program to shrink what was left of the tumor after the surgeries. I would like any information you might have on this type of tumor. See answer

Have a question? Contact a GARD Information Specialist.

References References

National Cancer Institute. Chordoma research. Genetic Epidemiology Branch. 2011; http://dceg.cancer.gov/geb/research/activeclinical/chordoma.
Chordoma. Genetics Home Reference. May, 2015; http://ghr.nlm.nih.gov/condition/chordoma.
Understanding Chordoma. Chordoma Foundation. 2017; https://www.chordomafoundation.org/understanding-chordoma/.
Palmer CA. Chordoma. Medscape Reference. 2016; http://emedicine.medscape.com/article/250902-overview.
Lanzino G, Dumont AS, Lopes MB & Laws ER Jr. Skull base chordomas: overview of disease, management options, and outcome. Neurosurgical Focus. 2001; 10:E12. http://www.ncbi.nlm.nih.gov/pubmed/16734404.
Erdem E, Angtuaco EC, Van Hemert R, Park JS & Al-Mefty O. Comprehensive review of intracranial chordoma. Radiographics. 2003; 23:995-1009. http://www.ncbi.nlm.nih.gov/pubmed/12853676.
Mendenhall WM, Mendenhall CM, Lewis SB, Villaret DB & Mendenhall NP. Skull base chordoma. Head & Neck. 2005; 27:159-165. http://www.ncbi.nlm.nih.gov/pubmed/15641104.