Chordomas
Chordomas are rare malignant bone tumors that primarily develop along the spinal cord, most frequently occurring at the base of the skull, the sacrum, or the coccyx. These tumors arise from remnants of the notochord, a structure present during early fetal development. The incidence of chordomas is low, with estimates of approximately one in one million individuals affected, and they account for 1 to 4 percent of malignant bone tumors. Risk factors include genetic mutations in specific chromosomes and genes, with men being twice as likely to develop chordomas compared to women. Symptoms can vary based on the tumor's location, potentially causing headaches, leg weakness, numbness, and other neurological issues. Diagnosis typically involves imaging tests such as CT and MRI scans, followed by a biopsy to confirm the presence of cancerous cells. Treatment often involves surgery, but due to the tumors' proximity to critical structures, complete removal can be challenging and may result in nerve damage. Radiation therapy and targeted medications may also be utilized to manage the condition. The prognosis varies, with survival rates generally estimated between 68 and 72 percent over five years, particularly better for those with skull base chordomas.
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Subject Terms
Chordomas
ALSO KNOWN AS: Chordocarcinomas, chordoepitheliomas
RELATED CONDITIONS: Sarcomas
DEFINITION: Chordomas are cancerous bone tumors that can occur anywhere along the spinal cord, most commonly at the base of the skull, at the base of the spine (sacrum), or in the tailbone (coccyx).
Risk factors: Carrying genetic mutations in chromosome 7 or the genes TSC1, TSC2, or T may increase an individual's risk of developing chordomas. Bone injury, environment, diet, and lifestyle do not appear to play a role in their development. Mutations in the TBXT have been identified as likely causes of chordomas.
Etiology and the disease process: Chordomas develop in leftover pieces of cells from the notochord, a flexible, rod-shaped structure that forms during early fetal development and precedes the spine.
Incidence: Chordomas are rare. They account for between 1 and 4 percent of malignant bone tumors and occur in approximately one in one million patients. Chordomas at the skull base are more common in women and Black Americans. Men are twice as likely to develop chordomas than women.
Symptoms: Symptoms develop gradually and depend on the tumor site. Tumors near the skull base can cause headaches, face pain, and vision problems. Tumors in the lower spine and tailbone area may lead to leg weakness, leg or groin numbness, constipation, impotence, and bowel and bladder dysfunction. A tailbone chordoma may manifest with a noticeable mass. Chordomas in the upper part of the spine may cause hoarseness and swallowing problems.
Screening and diagnosis: Most chordomas grow slowly and do not spread, and the gradual development of symptoms often results in a delayed diagnosis. Patients often have symptoms for more than a year before diagnosis. Imaging tests such as computed tomography (CT) scans and magnetic resonance imaging (MRI) can reveal bone destruction and tissue damage. A biopsy of the tumor confirms the diagnosis.
Treatment and therapy: Surgery to remove the tumor and surrounding tissue is the best option but often difficult because of the tumor’s precarious positioning near the spinal cord and brain. Surgery often results in some type of nerve loss. For example, removing a chordoma from the tailbone can damage the nerves that control bladder and bowel function. Radiation therapy may be used along with surgery to ensure that all cancer cells are destroyed. Targeted-therapy medications such as imatinib and sirolimus can inhibit the expression of mutated genes and slow the growth of chordomas or even shrink the tumors. does not appear to be an effective treatment for chordomas. Molecular therapies, and heavy particle beam therapies have shown great benefits to patients with chordomas.
Prognosis, prevention, and outcomes: If cancer cells remain after treatment, a chordoma can recur and spread to other parts of the body, most commonly the lymph nodes, lungs, and liver. The recurrence rate is high. Survival rates depend on the location of the tumor. Persons with chordomas of the skull base tend to have the best prognosis. Overall, between 68 and 72 percent of persons with chordomas survive at least five years.
Bibliography
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“Studies of Familial and Non-familial Chordoma, a Rare Bone Cancer.” Division of Cancer Epidemiology and Genetics, dceg.cancer.gov/research/clinical-studies/chordoma. Accessed 25 July 2024.
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