What is Chordoma and Its Different Types

Chordoma is a rare cancer that forms in the bones of your skull base and spine. It grows slowly but can become aggressive, often requiring expert care. This condition affects fewer than 1 in 1 million people annually. For example, in the United States, the incidence rate is only 0.088 per 100,000 persons per year:

Understanding this disease is crucial for early detection and effective treatment.

Key Takeaways

• Chordoma is a rare type of cancer. It grows in the bones of the skull base and spine. It affects fewer than 1 in 1 million people yearly.

• There are four main types of chordoma: conventional, poorly differentiated, dedifferentiated, and chondroid. Each type has different traits and treatments.

• Common signs of chordoma include pain and nerve problems. Symptoms depend on where the tumor is located. Finding it early helps with better treatment.

• Surgery is the main way to treat chordoma. Radiation therapy is often used after surgery to kill leftover cancer cells. Special care can improve survival chances.

• Genes play a big part in chordoma development. Knowing these risks helps people stay aware and get medical help if needed.

Overview of Chordoma

What is Chordoma?

Chordoma is a unique type of cancer that develops in the bones along your spinal axis. It originates from remnants of the notochord, a structure present during early development. Although it grows slowly, it can invade nearby tissues and become aggressive. You’ll often find chordomas in specific areas, such as the sacrum (50%), the skull base (35%), and the vertebral bodies (15%). These tumors express the brachyury gene, which plays a key role in their development.

Doctors classify chordomas into four subtypes: conventional, poorly differentiated, dedifferentiated, and chondroid. Each subtype has distinct characteristics, which influence treatment approaches and outcomes. Surgery is the primary treatment, but its location often makes complete removal challenging. High-dose radiation therapy, such as proton beam radiation, is commonly used after surgery to target any remaining cancer cells.

How Rare is Chordoma?

Chordoma is one of the rarest cancers, affecting only 1 to 3 people per million annually. In the United States, approximately 300 new cases are diagnosed each year. The age-adjusted incidence rate is 0.08 per 100,000 people. Men are slightly more likely to develop chordoma, with an incidence rate of 0.10 per 100,000 compared to 0.06 per 100,000 in women.

Who Does Chordoma Affect?

Chordoma primarily affects adults over the age of 50, although it can occur at any age. Men are slightly more likely to develop this cancer than women. The disease is linked to embryonic notochordal cells, which remain in your body after birth. These cells can later transform into cancerous tumors.

Genetic factors also play a role in chordoma development. Alterations in genes like brachyury, SMARCB1, PTEN, and CDKN2A have been associated with this condition. While chordoma is rare, understanding its risk factors can help you stay informed and seek medical advice if needed.

Common Locations of Chordoma

Chordomas typically develop along the midline of your spinal axis. These tumors arise from remnants of the notochord, a structure present during early development. You will most often find chordomas in three key areas: the sacrum, the skull base (clivus), and the vertebrae of the mobile spine.

• Sacrum: This is the most common site for chordomas, accounting for about 50% of cases. The sacrum is located at the base of your spine, connecting to the pelvis. Tumors in this area can cause symptoms like lower back pain, bowel or bladder dysfunction, and numbness in your legs.

• Skull Base (Clivus): Around 35% of chordomas occur at the clivus, a bony area near the base of your skull. These tumors can affect nearby nerves, leading to symptoms such as double vision, headaches, or difficulty swallowing.

• Vertebrae of the Mobile Spine: Approximately 15% of chordomas develop in the vertebrae of your cervical, thoracic, or lumbar spine. These tumors can cause localized pain, weakness, or difficulty moving.

🧠 Tip: If you experience persistent pain or neurological symptoms in these areas, consult a healthcare provider. Early detection can improve treatment outcomes.

To summarize, chordomas most frequently appear in the sacrum, clivus, and mobile spine. Each location presents unique challenges for diagnosis and treatment. Understanding these common sites can help you recognize potential symptoms and seek timely medical advice.

Types of Chordoma

Conventional Chordoma

Conventional chordoma is the most common type of this rare cancer. It grows slowly and typically stays localized for a long time before spreading. You will often find this type in the sacrum, skull base, or spine. Despite its slow growth, it can invade nearby tissues, making treatment challenging. Surgery is the primary approach, often followed by radiation therapy to remove any remaining tumor cells.

To help you understand how conventional chordoma compares to other types, here’s a quick overview:

Chondroid Chordoma

Chondroid chordoma is a subtype of conventional chordoma. It shares some features with cartilage tumors, which can make diagnosis more complex. This type often appears in the skull base and has a slightly better prognosis compared to other chordoma types. You may hear doctors describe it as having a mix of bone and cartilage-like cells. Treatment usually involves surgery and radiation, similar to conventional chordoma.

Dedifferentiated Chordoma

Dedifferentiated chordoma is the most aggressive and fastest-growing subtype. It accounts for a small percentage of cases but poses significant challenges due to its high-grade nature. This type often spreads to other parts of the body, making it harder to treat. Unlike conventional chordoma, dedifferentiated chordoma responds better to chemotherapy. Doctors may use drugs like anthracyclines, cisplatin, or alkylating agents to manage this type.

Here’s how dedifferentiated chordoma differs from conventional chordoma:

🩺 Note: If you or someone you know is diagnosed with dedifferentiated chordoma, early and aggressive treatment can improve outcomes.

Poorly Differentiated Chordoma

Poorly differentiated chordoma is a rare and aggressive subtype of chordoma. It was officially recognized as a distinct type in 2020 by the World Health Organization. This form of chordoma often affects younger individuals, with a median age of diagnosis at just 11 years. Tumors typically develop in the skull base (53%), cervical spine (32%), or sacrum/coccyx (16%). These locations can lead to severe symptoms, including pain, neurological deficits, and difficulty with basic functions like swallowing or movement.

This subtype is characterized by unique tumor features. The cells form sheets of epithelioid cells with nuclear pleomorphism, abundant eosinophilic cytoplasm, and increased mitoses. These features make poorly differentiated chordoma more aggressive than other types. Its immunohistochemical profile shows positivity for cytokeratin and brachyury in 100% of cases, which helps doctors confirm the diagnosis.

Treatment for poorly differentiated chordoma requires a combination of approaches. Surgery aims to remove as much of the tumor as possible. Radiation therapy, often with high-dose techniques, targets remaining cancer cells. Chemotherapy may also be used, especially for aggressive cases. Despite these efforts, survival outcomes remain lower compared to other chordoma subtypes. Early diagnosis and specialized care are essential to improve prognosis.

🩺 Tip: If you or a loved one experiences persistent symptoms like pain or neurological issues, consult a specialist. Early intervention can make a significant difference.

Symptoms and Diagnostic Challenges

Common Symptoms of Chordoma

Chordoma symptoms vary depending on the tumor's location. These tumors often press on nearby nerves or tissues, causing pain and other issues. You might experience symptoms in the neck, back, or lower body, depending on where the tumor develops.

Here’s a breakdown of common symptoms based on tumor location:

In general, you might notice pain, weakness, or numbness in your back, arms, or legs. Tumors at the base of the skull can cause double vision, blurry vision, headaches, or facial numbness. If the tumor is near your tailbone, you may feel a lump under the skin, experience bladder or bowel issues, or have persistent tailbone pain.

🩺 Tip: If you notice any of these symptoms, especially if they persist or worsen, consult a healthcare provider. Early evaluation can lead to better outcomes.

Why is Chordoma Difficult to Diagnose?

Diagnosing chordoma can be challenging because its symptoms often mimic other, more common conditions. For example, back pain or headaches might initially seem unrelated to a tumor. Additionally, chordomas grow slowly, so symptoms may develop gradually over time, delaying diagnosis.

Another challenge lies in the tumor's location. Chordomas often occur in areas like the sacrum or skull base, which are difficult to access and visualize using standard imaging techniques. Even when imaging reveals a mass, its appearance can resemble other types of tumors, such as cartilage or bone cancers.

Doctors rely on advanced imaging, such as MRI or CT scans, to identify chordomas. A biopsy is usually necessary to confirm the diagnosis. This process involves removing a small sample of the tumor and analyzing it under a microscope. Pathologists look for specific markers, like the brachyury protein, to distinguish chordoma from other cancers.

🔍 Note: If you experience persistent symptoms and initial tests don’t provide clear answers, ask your doctor about further imaging or specialist referrals. Early and accurate diagnosis is key to effective treatment.

Causes and Risk Factors

Genetic Predispositions

Chordoma often has a genetic component, with specific mutations increasing your risk of developing this rare cancer. One key factor involves changes in the T gene, which plays a role in chordoma formation. In some families, an inherited duplication of the T gene has been linked to a higher likelihood of developing chordoma. However, in other cases, these duplications occur only in tumor cells and are not passed down genetically.

Another significant genetic factor is the brachyury gene. Over 95% of individuals with chordoma have a single-letter variation, known as a single nucleotide polymorphism (SNP), in this gene. This variation increases the risk of developing chordoma. Additionally, some families with a history of chordoma show duplications of the T gene, further highlighting the hereditary aspect of this condition.

🧬 Note: If you have a family history of chordoma, consider discussing genetic testing with your healthcare provider. Identifying potential risks early can help guide monitoring and care.

Other Potential Risk Factors

Unlike many cancers, chordoma does not have clear environmental, dietary, or lifestyle risk factors. Research has not identified any specific habits or exposures that increase your risk. Most chordomas occur randomly, without a direct link to inherited traits or external factors.

However, genetic factors remain the primary area of focus. Variations in the brachyury gene, for example, are strongly associated with chordoma development. While these genetic changes are significant, they do not guarantee that you will develop the condition. Instead, they indicate a higher likelihood compared to individuals without these variations.

🔍 Tip: Since chordoma lacks modifiable risk factors, staying informed about its genetic links can help you understand your personal risk. Regular check-ups and awareness of symptoms are crucial for early detection.

Diagnosis and Treatment

How is Chordoma Diagnosed?

Diagnosing chordoma involves a combination of imaging tests and tissue analysis. Imaging plays a crucial role in identifying the tumor and understanding its impact on surrounding structures. You may undergo the following tests:

• MRI (Magnetic Resonance Imaging): This is the most effective tool for visualizing chordoma. It provides detailed images of the tumor and its relationship with nearby tissues.

• CT (Computed Tomography) Scans: These scans help evaluate the tumor's bony involvement.

• PET (Positron Emission Tomography) Scans: While less reliable for chordoma due to its slow growth, PET scans can offer metabolic insights.

A definitive diagnosis requires a biopsy. During this procedure, a small sample of the tumor is removed and examined under a microscope. Pathologists look for specific markers, such as the brachyury protein, to confirm the presence of chordoma.

🩺 Tip: If you experience persistent symptoms and imaging suggests a tumor, ask your doctor about a biopsy for accurate diagnosis.

Treatment Options for Chordoma

Surgery

Surgery is the primary treatment for chordoma. Doctors aim to remove the tumor completely, along with some surrounding healthy tissue, to reduce the risk of recurrence. However, the tumor's location near critical structures often makes this challenging. For skull base tumors, surgeons may use endoscopic techniques through the nose to access and remove the tumor.

💡 Note: Surgery is often followed by radiation therapy to target any remaining cancer cells.

Radiation Therapy

Radiation therapy is essential for managing chordoma, especially when complete surgical removal is not possible. High-dose radiation, such as proton or carbon ion therapy, is most effective. For example, carbon ion radiotherapy has a 5-year local control rate of 76%, significantly higher than photon therapy.

Targeted Therapies

Targeted therapies focus on specific molecules involved in chordoma growth. Drugs like Imatinib and Erlotinib target receptors such as PDGFR and EGFR, which are overexpressed in many chordomas. While these therapies show promise, their effectiveness varies among patients.

Emerging Treatments

Research into immunotherapy offers hope for chordoma patients. Scientists are exploring how the immune system interacts with chordoma cells to develop new treatments. Additionally, ongoing studies aim to refine targeted therapies and identify new drug candidates.

🔬 Insight: Emerging treatments may provide better options for patients with advanced or recurrent chordoma.

Prognosis and Long-Term Impact

Survival Rates for Chordoma

Chordoma survival rates depend on factors like tumor type, stage, and treatment success. On average, the median survival rate is seven years. Here’s a breakdown of survival statistics:

• 5-year survival rate: 68%.

• 10-year survival rate: 40%.

• For skull base chordomas:

  • 5-year survival rate: 67% alive, 58% progression-free.

  • 10-year survival rate: 57% alive, tumor progression-free.

• Complete surgical removal improves the 5-year survival rate to 65%–70%.

• If complete removal isn’t possible, the 5-year survival rate drops to 40%.

These numbers highlight the importance of early diagnosis and effective treatment. You can improve your chances by seeking care from specialists experienced in treating chordoma.

Quality of Life After Treatment

Life after chordoma treatment often comes with challenges. Survivorship care plays a vital role in helping you manage physical, emotional, and social aspects of recovery. This care ensures you receive the support needed to navigate life after cancer.

The launch of the Chordoma Survivorship Initiative is tremendous news for the chordoma community. It will bring dedicated focus to helping chordoma survivors live well — physically, mentally, emotionally, financially — after their initial intense battle with chordoma.

Programs like this aim to improve your overall well-being and help you adapt to life post-treatment.

Importance of Follow-Up Care

Follow-up care is critical for monitoring your health after chordoma treatment. Regular check-ups help detect any recurrence early. Here’s what you should know:

• MRI scans every 6 months for the first 5 years, then annually for 15 years.

• CT scans of the chest every 6 months for 5 years, then annually to check for lung spread.

Close surveillance ensures any returning tumors are identified and treated promptly. Staying consistent with follow-up care can make a significant difference in your long-term health.

Chordoma is a rare and complex cancer that demands early diagnosis and specialized care. Understanding its types, symptoms, and treatments can empower you to make informed decisions. Several resources are available to support you and your family:

• Patient Navigation Services offer personalized guidance.

• Expert directories connect you with experienced doctors.

• Peer support programs and virtual groups provide emotional support.

• Educational materials help you learn about chordoma and treatment options.

Organizations like Peer Connect and Chordoma Connections also create valuable networks for sharing experiences and advice.

🩺 Tip: Establishing care with a multidisciplinary team improves outcomes and ensures access to the best resources.

FAQ

What makes chordoma different from other bone cancers?

Chordoma originates from notochord remnants, unlike most bone cancers that arise from bone or cartilage cells. It grows along the spine or skull base and expresses the brachyury protein, a unique marker. This distinct origin and behavior set it apart from other bone tumors.

Can chordoma spread to other parts of the body?

Yes, chordoma can metastasize, though it happens less frequently than with other cancers. Dedifferentiated chordoma has a higher tendency to spread, often to the lungs, liver, or lymph nodes. Early treatment and regular follow-ups help manage this risk.

Is chordoma hereditary?

Chordoma is rarely hereditary. However, some cases link to genetic mutations, like T gene duplications or brachyury gene variations. If you have a family history of chordoma, genetic counseling can help assess your risk and guide monitoring.

How long does chordoma treatment take?

Treatment duration depends on the tumor's size, location, and type. Surgery and radiation therapy may take weeks to months. Follow-up care, including imaging and monitoring, continues for years to ensure no recurrence.

Are there support resources for chordoma patients?

Yes, many organizations offer support. Groups like the Chordoma Foundation provide patient navigation, peer connections, and educational materials. Joining these networks can help you access expert care and emotional support during your journey.

💡 Tip: Explore online communities or local support groups to connect with others who share similar experiences.

See Also

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An In-Depth Look At Various Types Of Cancer