Chordoma

Chordoma

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Chordoma is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Clival Chordoma
  • Familial Chordoma
  • Intracranial Chordoma
  • Sacrococcygeal Chordoma
  • Skull Base Chordoma
  • Spinal Chordoma

Disorder Subdivisions

  • None

General Discussion

Chordomas are very rare primary bone tumors that can arise at almost any point along the axis of the spine from the base of the skull to the sacrum and coccyx (tailbone). The incidence of chordoma in the general U.S. population is about 8 per 10,000,000 people. They occur somewhat more often in males than females and, for unknown reasons, are rare in African Americans. Under the microscope, chordoma cells appear to be benign, but because of their location, invasive nature, and recurrence rate, the tumors are considered to be malignant. They arise from cellular remnants of the primitive notochord, which is present in the early embryo. In normal mammalian development, the notochord and substances produced by it are involved in forming the tissues that give rise to vertebrae. Normally, the tissues derived from the notochord disappear after the vertebral bodies have begun forming. However, in a small percentage of people, some tissues from the notochord do not disappear. Rarely, these leftover tissues give rise to chordomas.



About one-third of chordomas are found in the region around the clivus. The clivus is a bone in the base of the skull. It is located in front of the brainstem and behind the back of the throat (nasopharynx). Chordomas occur with equal frequency in the skull base, the vertebrae and the sacrococcygeal area towards the bottom of the spine.



Symptoms of the presence of chordomas vary with their location and size. Most chordomas occur randomly among the population (sporadic). However, some people develop this tumor as a result of a mutation inherited as an autosomal dominant trait.

Symptoms

Symptoms vary with the location of the tumor and from person to person. If the chordoma is located near the top of the spine or the base of the brain, headaches and changes caused by compression of cranial nerves may occur. The symptoms that result from compression of the cranial nerves are called "palsies". Other signs, less frequently encountered, are difficulty in swallowing, facial pain, partial facial paralysis, double vision, loss of hearing and problems with balance (ataxia).



If the chordoma is located at a vertebra of the spine, the symptoms will vary according to the location of the involved vertebra. As more bone becomes involved and degenerates, the symptoms will increase in intensity. Symptoms from spinal chordomas can be subtle and the tumor may take considerable time to be diagnosed. The more frequent signs are lower back pain without distinguishing characteristics and constipation. Other symptoms may include radiating pains in the leg and urinary complaints, such as not being able to control the flow of urine.

Causes

Most chordomas arise from remnant cells of the embryonic notochord, the precursor of the vertebrae and discs between the vertebrae. How and why these cells become malignant is not clear. However, there is a rare familial form of the disorder that is genetically transmitted as an autosomal dominant trait. Studies have pinpointed the mutated gene to the long arm of chromosome 7 at Gene Map Locus 7q33.



Chromosomes, which are present in the nucleus of every human cell, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. These consist of 22 pairs of human chromosomes of which each member of a pair looks the same under a microscope and carries the same genes. The pairs are numbered from 1 through 22. The 23rd pair consists of two sex chromosomes. The sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 7q33" refers to band 33 on the long arm of chromosome 7. The numbered bands specify the location of the thousands of genes that are present on each chromosome.



Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.



Dominant genetic disorders are generally quite rare, because the gene changes that cause them are rare in the population. If a disorder is caused by a dominantly inherited gene change or mutation, this means that only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new gene change (mutation) in the affected individual. This change usually occurs during embryonic development. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Affected Populations

Chordomas are more frequently found in males than in females by a factor of about 2:1. Most chordomas are diagnosed in people who are between 50 and 60 years of age but the tumors can occur much earlier and much later. In general, children and females are more likely to have skull base tumors and males are more likely to have sacral tumors.

Standard Therapies

Diagnosis

For chordomas located in or near the skull base, imaging techniques such as magnetic resonance imaging (MRI) studies or CT scans are useful to make a tentative diagnosis but microscopic examination of tumor tissue obtained through a biopsy (surgery to obtain a small piece of tumor) or surgery to remove the tumor is essential to make a definitive diagnosis. Chordomas located within or near vertebrae, or the sacrum or coccyx, will usually be seen best using either MRI or CT scans, but diagnosis must be based on examining a piece of tumor tissue removed during surgery under the microscope.



Treatment

Surgery is the primary form of treatment for chordoma with the goal being to remove all visible tumor. This is very difficult to do because of the location of most chordomas. Local recurrence (regrowth of tumor at the site of surgery) after surgical treatment is not uncommon; to prevent this from happening, radiation therapy is often given. The spread of tumor beyond its first location is uncommon, occurring in only about 10% of cases.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Berkow R, ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:520.



Rowland LP, ed. Merritt's Neurology. 10th ed. Lippincott Williams & Wilkins. Philadelphia, PA. 2000:357-58.



Beers MH, Berkow R, eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:468.



Bennett JC, Plum F, eds. Cecil Textbook of Medicine. 20th ed. W.B. Saunders Co., Philadelphia, PA; 1996:2131.



JOURNAL ARTICLES

Casali PG, Messina A, Stacchiotti S, et al. Imatinib mesylate in chordoma. Cancer. 2004 Sep 15 [Epub ahead of print]



Yamaguchi T, Suzuki S, Ishiiwa H, et al. Intraosseous benign notochordal cell tumors: overlooked precursors of classic chordomas? Histopathology. 2004;44:597-602.



Yamaguchi T, Suzuki S, Ishiiwa H, et al. Benign notochordal cell tumors: A comparative histological study of benign notochordal cell tumors, classic chordomas, and notochordal vestiges of fetal invertebral discs. Am J Surg Path. 2004;28:756-61.



Kurtsoy A, Menku A, Tucer B, et al. Transbasal approaches: surgical details, pitfalls and avoidances. Neurosurg Rev. 2004 Apr 8 [Epub ahead of print]



Pamir MN, Kilic T, Ture U, et al. Multimodality management of 26 skull-base chordomas with 4-year mean follow-up: experience at a single institution. Acta Neurochir (Wien). 2004;146:343-56.



Alvarado R, Gomez J, Morale SG, et al. Neckpain: common complaint uncommon diagnosis - symptomatic clival chordoma. South Med J. 2004;97:83-86.



Boneschi V, Tourlaki A, Parafioriti A, et al. Chordoma cutis. Eur J Dermatol. 2003;23:593-95.



Stark AM, Mehdorn HM. Chondroid Clival Chordoma. N Engl J Med. 2003;349:e10.



St. Martin M, Levine SC. Chordomas of the skull base: manifestations and management. Curr Opin Otolaryngol Head Neck Surg. 2003;11:324-27.



Erdem E, Angtuaco EC, Van Hemert R, et al. Comprehensive review of intracranial chordoma. Radiographics. 2003;23:995-1009.



Kay PA, Nascimento AG, Unni KK, et al. Chordoma. Cytomorphologic findings in 14 cases diagnosed with fine needle aspiration. Acta Cytol. 2003;47:202-08.



Dow GR, Robson DK, Jaspan T, et al. Intradural cerebellar chordoma in a child: a case report and review of the literature. Childs Nerv Syst. 2003;19:181-91.



Fourney DR, Gokaslan ZL. Current management of sacral chordoma. Neurosurg Focus. 2003;15:E9.



McMaster ML, Goldstein AM, Bromley CM, et al. Chordoma: incidence and survival patterns in the United States, 1973-1995. Cancer Causes and Control 2001;12:1-11.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Chordoma; CHDM. Entry Number; 215400: Last Edit Date; 3/18/2004.



Parry DM, McMaster ML, Zametkin D. Familial Chordoma. NCI. Division of Cancer Epidemiology and Genetics. November 2003. 4pp.

http://dceg.cancer.gov/chordoma-overview.html



Peretti P, Brunel H, Borrione F. Chordoma. emedicine. Last Updated: August 30, 2002. 17pp.

www.emedicine.com/radio/topic169.htm



Palmer CA. Chordoma. emedicine. Last Updated: October 2, 2001. 8pp.

www.emedicine.com/med/topic2993.htm

Resources

American Brain Tumor Association

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Children's Brain Tumor Foundation

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Brain Tumor Foundation for Children, Inc.

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Email: info@braintumorkids.org

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Cancer Research UK

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Rare Cancer Alliance

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Genetic and Rare Diseases (GARD) Information Center

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Chordoma Support Group

451 Caesar Avenue

Oakville

Ontario, L6J 3Z1

Canada

Tel: 9058450372

Email: chordomamanagers@gmail.com

Internet: http://www.chordomasupport.org



Pediatric Brain Tumor Foundation

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Friends of Cancer Research

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Cancer Support Community

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Lance Armstrong Foundation

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Email: media@livestrong.org

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National Brain Tumor Society

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Chordoma Foundation

PO Box 2127

Durham, NC 27701

USA

Tel: (919)809-6779

Fax: (866)367-3910

Tel: (888)502-6109

Email: josh@chordoma.org

Internet: http://www.chordoma.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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