Symptoms
Common signs and symptoms of Chordoma include:
When to see a doctor
If you experience severe or worsening symptoms, seek immediate medical attention. Always consult with a healthcare professional for proper diagnosis and treatment.
Causes & Risk Factors
Several factors can contribute to Chordoma.
The exact cause of chordoma remains largely unknown, but scientists understand the basic mechanism behind its development.
The exact cause of chordoma remains largely unknown, but scientists understand the basic mechanism behind its development. During fetal development, a structure called the notochord helps form the spine and then typically disappears. In some people, small clusters of notochord cells persist after birth, remaining dormant for decades.
These leftover cells can eventually undergo genetic changes that transform them into cancer.
These leftover cells can eventually undergo genetic changes that transform them into cancer. Researchers have identified specific genetic mutations, particularly in genes called brachyury and CDK pathways, that appear to drive this transformation. However, what triggers these genetic changes in the first place remains unclear.
Unlike many other cancers, chordoma doesn't appear to be caused by environmental factors like smoking, radiation exposure, or chemical toxins.
Unlike many other cancers, chordoma doesn't appear to be caused by environmental factors like smoking, radiation exposure, or chemical toxins. Most cases develop sporadically, meaning they occur randomly rather than being inherited. While very rare familial cases have been reported, the vast majority of people with chordoma have no family history of the disease.
Risk Factors
- Age between 40-70 years
- Male gender (slightly higher risk)
- Rare genetic mutations affecting notochord development
- Previous radiation exposure to spine or skull (very rare cases)
- Family history of chordoma (extremely rare)
- Certain rare genetic syndromes (tuberous sclerosis)
Diagnosis
How healthcare professionals diagnose Chordoma:
- 1
Diagnosing chordoma often takes time because early symptoms can mimic more common conditions like arthritis or tension headaches.
Diagnosing chordoma often takes time because early symptoms can mimic more common conditions like arthritis or tension headaches. The process typically begins when a patient reports persistent pain or neurological symptoms that don't respond to standard treatments. Doctors usually start with a physical examination and detailed medical history.
- 2
Imaging studies form the cornerstone of chordoma diagnosis.
Imaging studies form the cornerstone of chordoma diagnosis. MRI scans provide the most detailed pictures of these tumors, showing their exact location and relationship to nearby structures. CT scans help evaluate bone destruction, while specialized imaging techniques can reveal how the tumor affects blood vessels and nerves. The characteristic appearance on MRI - a lobulated mass with specific signal patterns - often suggests chordoma before a biopsy is performed.
- 3
A tissue biopsy provides the definitive diagnosis.
A tissue biopsy provides the definitive diagnosis. Given the tumor's location near critical structures, this procedure requires careful planning and is often performed by neurosurgeons or orthopedic spine specialists. The tissue sample undergoes detailed examination under a microscope, and special stains help distinguish chordoma from other tumors that can look similar. Genetic testing of the tumor tissue may also help guide treatment decisions.
Complications
- The most significant complications arise from the tumor's location rather than its spread to other parts of the body.
- As chordoma grows, it can compress or damage critical structures like the brainstem, spinal cord, or major blood vessels.
- This can lead to permanent neurological deficits including paralysis, loss of sensation, or problems with basic functions like breathing and swallowing.
- Treatment-related complications also pose significant challenges.
- Surgery in these delicate areas carries risks of nerve damage, bleeding, and infection.
- Some patients may experience cerebrospinal fluid leaks that require additional procedures to repair.
- Radiation therapy, while generally well-tolerated, can sometimes cause delayed effects including damage to nearby healthy tissue or, rarely, secondary cancers years later.
- The most concerning long-term issue is tumor recurrence, which occurs in a significant percentage of patients even after apparently successful treatment.
Prevention
- Currently, no known methods exist to prevent chordoma.
- Unlike many other cancers, chordoma doesn't appear to be linked to lifestyle factors that people can modify.
- The tumor develops from cells present since birth, and the genetic changes that trigger cancer formation occur randomly and unpredictably.
- Since most cases arise sporadically without any family history, genetic screening isn't recommended for the general population.
- Even in the extremely rare families where multiple cases have occurred, the genetic patterns remain poorly understood, making preventive strategies difficult to develop.
- The best approach focuses on awareness and early detection.
- People experiencing persistent headaches, back pain that doesn't improve, or unexplained neurological symptoms should seek medical evaluation.
- While these symptoms are much more likely to have common causes, early diagnosis of chordoma - when it does occur - can lead to better treatment outcomes and quality of life.
Surgery represents the primary treatment for chordoma, with the goal of removing as much tumor as possible while preserving neurological function.
Surgery represents the primary treatment for chordoma, with the goal of removing as much tumor as possible while preserving neurological function. Given the tumor's location near vital structures, these operations require extraordinary skill and often involve teams of specialists including neurosurgeons, orthopedic surgeons, and plastic surgeons. Complete removal isn't always possible, particularly when the tumor wraps around blood vessels or the spinal cord.
Radiation therapy plays a crucial role, especially when surgery cannot remove the entire tumor.
Radiation therapy plays a crucial role, especially when surgery cannot remove the entire tumor. Traditional radiation often proves insufficient, so doctors typically use advanced techniques like proton beam therapy or stereotactic radiosurgery. These methods deliver high doses of radiation precisely to the tumor while minimizing exposure to surrounding healthy tissue. Treatment usually occurs over several weeks.
Chemotherapy has historically shown limited effectiveness against chordoma, but newer targeted therapies offer more promise.
Chemotherapy has historically shown limited effectiveness against chordoma, but newer targeted therapies offer more promise. Drugs that target specific molecular pathways involved in chordoma growth, such as imatinib and other tyrosine kinase inhibitors, have shown benefit in some patients. Clinical trials continue to investigate novel treatments including immunotherapy approaches.
Recent advances include better surgical techniques using computer-guided navigation systems and intraoperative monitoring to protect nerve function during tumor removal.
Recent advances include better surgical techniques using computer-guided navigation systems and intraoperative monitoring to protect nerve function during tumor removal. Some centers now use endoscopic approaches for skull base chordomas, which can reduce surgical trauma and improve recovery times. Researchers are also exploring combination treatments that use multiple targeted drugs simultaneously.
Living With Chordoma
Living with chordoma requires ongoing medical care and regular monitoring. Most patients need MRI scans every few months initially, then at longer intervals to watch for tumor recurrence. Many people continue to work and maintain active lives, especially when the tumor is caught early and treatment is successful. However, some may need accommodations for physical limitations or fatigue related to treatment.
Latest Medical Developments
Latest medical developments are being researched.
Frequently Asked Questions
Update History
May 6, 2026v1.0.0
- Published by DiseaseDirectory