Chordoma is a rare bone cancer that grows from remnants of the spine’s early development. People with chordoma often notice pain in the skull base, neck, or lower back, and some develop numbness, weakness, headaches, or vision or swallowing changes. It tends to grow slowly but can be locally aggressive and may come back after treatment. Chordoma is most often diagnosed in adults, but it can occur in children too. Treatment usually involves complex surgery and high‑dose targeted radiation, and survival depends on tumor location, size, and how completely it can be removed.
Overview
ChordomaSymptoms
Chordoma symptoms depend on tumor location and often start subtly. Early symptoms of chordoma include tailbone or neck pain and headaches. As it grows, you may develop double vision, swallowing trouble, numbness or weakness, and bowel or bladder changes.
Outlook and prognosis
Many people with chordoma live for years, especially when it’s found early and treated at a center experienced with skull base and spine tumors. Outcomes are best with complete surgical removal and carefully planned radiation. Regular imaging helps catch regrowth early.
Causes and risk factors
Chordoma likely starts from remnants of early spine tissue and usually occurs by chance. Rarely, an inherited change in the brachyury (T) gene raises risk. It’s more common in men and adults over 40; no proven lifestyle or environmental risks.
Genetic influences
Genetics play a key role in chordoma risk and behavior. Most cases are sporadic, but inherited changes—especially T gene (brachyury) variants—raise risk in some families. Tumor cells often show specific genetic alterations that can guide diagnosis and targeted trials.
Diagnosis
Chordoma is diagnosed with imaging—usually MRI and CT—to define the tumor’s location and extent. The diagnosis of Chordoma is confirmed by a needle biopsy, with lab tests on the tissue. Additional scans check whether it has spread.
Treatment and drugs
Treatment for chordoma often combines surgery to remove as much tumor as safely possible with precise, high‑dose radiation to control remaining cells. Selected cases may add targeted therapies or clinical trials, especially if surgery isn’t feasible or disease returns. Care at experienced centers improves planning and outcomes.
Symptoms
Symptoms of chordoma depend on where the tumor grows along the spine or the base of the skull. Early symptoms of chordoma are often subtle—like steady tailbone pain, headaches, numbness, or tingling—and can be mistaken for common back or sinus problems. Symptoms vary from person to person and can change over time. As the tumor presses on nearby nerves and tissues, problems with movement, sensation, vision, swallowing, or bladder and bowel control may develop.
Ongoing deep pain in the neck, back, or tailbone that doesn’t ease with rest. It can be steady or slowly worsening. Many people with chordoma first notice tailbone or low back pain.
Pins-and-needles or reduced feeling in the arms, hands, legs, or feet. It may come and go at first and last longer over time.
Trouble lifting the foot, gripping objects, or climbing stairs. Muscles can feel heavy or give way after short effort.
Feeling unsteady, tripping more, or needing a handrail. What once felt effortless can start to require more energy or focus.
How people usually first notice Chordoma?
Many people first notice chordoma as a slow-growing, deep ache or pressure that doesn’t go away, often in the base of the skull or along the spine, sometimes with headaches, double vision, or trouble swallowing if it presses on nerves. When the tumor is lower in the spine, the first signs of chordoma can be persistent back or tailbone pain, numbness or weakness in a leg, changes in bowel or bladder habits, or a noticeable lump near the sacrum. Because symptoms build gradually and can mimic common issues like back strain or sinus problems, chordoma is often found after persistent symptoms lead to imaging tests such as MRI or CT.
Types of Chordoma
Chordoma can look different depending on where it starts along the spine and skull base. These clinical variants matter because location drives early symptoms of chordoma, treatment options, and potential effects on nerves. People may notice different sets of symptoms depending on their situation.
Clival chordoma
Starts at the skull base behind the nose. Often causes headaches, double vision, or trouble swallowing as nearby nerves are pressed. Ear fullness or nasal blockage can show up when sinuses are involved.
Cervical spine
Arises in the neck vertebrae. Neck pain, stiffness, or a lump at the back of the throat can occur as it grows forward. Arm weakness or tingling may happen if the spinal cord or nerve roots are affected.
Thoracic spine
Forms in the mid‑back area. Back pain and band‑like chest or rib pain are common early signs. Breathing discomfort or cough can appear if the mass pushes toward the chest.
Lumbar spine
Involves the lower back vertebrae. Low‑back pain that worsens with sitting or bending is common. Leg pain, numbness, or changes in reflexes can occur if nerves are compressed.
Sacral chordoma
Begins in the sacrum near the tailbone. Pelvic or tailbone pain, constipation, or trouble with bowel or bladder control can develop. Some may notice a deep, slowly enlarging mass in the buttock or pelvis.
Pediatric cases
Less common in children and teens. Symptoms often reflect location but may progress faster due to growth. Early imaging is important if persistent pain or neurologic changes don’t improve.
What genetics can tell you about symptoms
Some people with chordoma carrying changes in the T gene (brachyury) tend to develop tumors at the skull base or tailbone, often causing headaches, double vision, or tailbone pain. Families with inherited brachyury variants may notice earlier onset and multiple affected relatives.
Causes and risk factors
Chordoma begins in leftover notochord cells from early development. Most cases arise by chance from gene changes in these cells over time, while a small share runs in families due to a rare inherited change involving the T (brachyury) gene. Documented risk factors for chordoma include older age and being male, but it can occur at any age. Some risks are modifiable (things you can change), others are non-modifiable (things you can’t). For chordoma, known risks are mostly not modifiable, and no clear links to lifestyle or environmental exposures have been shown.
Environmental and biological risk factors
Chordoma is a rare cancer that grows along the spine or skull base and often develops slowly over years. Because early symptoms of chordoma can be subtle, it helps to understand what may raise the chance of developing it. Doctors often group risks into internal (biological) and external (environmental). Below are the main factors currently known or suspected.
Most chordomas are diagnosed in mid to later adulthood, often between ages 40 and 70. Tumor cells may take many years to grow enough to cause symptoms. Children can be affected, but this is uncommon.
Men and people assigned male at birth have a higher rate than women. Biological differences may contribute, but the exact reason is not clear. The difference is seen across both skull base and sacral tumors.
Chordoma starts from leftover cells of the embryonic notochord that remain along the spine and skull base. Where these cell rests persist, there is a biological foothold for a tumor to form years later. This pattern explains why tumors cluster in the clivus, mobile spine, and sacrum.
No consistent environmental exposure has been proven to cause chordoma. Studies have not shown clear links with workplace chemicals, air pollution, or everyday radiation. Research continues, but current evidence points mainly to internal biological factors.
Genetic risk factors
If a close relative has had chordoma, it’s natural to wonder about inherited risk. Most chordomas arise sporadically, but a small number are linked to inherited changes in the brachyury (TBXT) gene, and nearly all tumors show genetic changes that drive their growth. Risk is not destiny—it varies widely between individuals. Understanding genetic risk factors for chordoma can guide who might consider genetic counseling and what to do if early symptoms of chordoma ever appear.
TBXT duplication: A rare inherited duplication of the brachyury (TBXT) gene markedly increases the chance of familial chordoma. Not everyone with this duplication develops the disease, and age at diagnosis can vary.
Common TBXT variant: A frequent single-letter change in TBXT (often called rs2305089) slightly raises risk in some populations. Its effect is modest, and most carriers never develop chordoma.
Family history: Having multiple relatives with chordoma suggests a shared inherited risk, most often tied to TBXT changes. Genetic counseling and, in select cases, testing may clarify who in the family is at higher risk.
Brachyury overexpression: Most chordoma tumors show extra activity or extra copies of brachyury (TBXT), which can function like a stuck growth switch for the tumor. This is a tumor change, not something you are born with in most cases.
Tumor suppressor losses: Many chordomas lose protective genes that normally slow cell division, such as CDKN2A. These are acquired changes in the tumor and may relate to a faster-growing course.
SMARCB1 changes: Rare inherited alterations in the SMARCB1 gene can predispose children to a poorly differentiated form of chordoma. Families with known SMARCB1-related conditions may benefit from genetics input when unusual symptoms arise.
Lifestyle risk factors
There are no well-established lifestyle risk factors for chordoma, and research has not identified specific habits that increase the chance of developing it. In other words, lifestyle risk factors for chordoma appear minimal or unknown at this time. Still, daily habits can affect how well you tolerate treatment, heal from surgery, and manage complications.
Smoking has not been shown to increase chordoma risk. It can worsen lung function and wound healing, increasing anesthesia and surgical complications.
Alcohol is not linked to a higher chance of chordoma. Heavy use can impair liver function and recovery, complicating medication metabolism and nutrition during treatment.
No specific diet is known to raise chordoma risk. A balanced, protein-adequate diet can support wound healing, maintain strength, and reduce treatment-related fatigue.
Exercise has not been shown to prevent chordoma. It can improve cardiopulmonary fitness for surgery, preserve mobility after spine or skull-base procedures, and reduce fatigue from radiation.
Risk prevention
Chordoma is a rare bone cancer that starts from remnants of the notochord, and there’s no proven way to prevent it from developing. Prevention focuses on spotting it early—especially in families with a known inherited risk—and reducing complications through expert care and follow-up. If you have several relatives affected or a known gene change in the family, targeted screening can catch tumors sooner. Knowing your risks can guide which preventive steps matter most.
Ask relatives whether anyone has had chordoma or rare skull base or sacral tumors. Patterns across close family, especially at younger ages, can point to higher risk.
In families with more than one case of chordoma or a known brachyury (TBXT) gene change, a genetics professional can discuss testing and tailored monitoring. Results can guide who needs imaging and how often.
People at confirmed high risk may benefit from periodic MRI of the skull base and spine. Finding a tumor early can allow for more options and less extensive treatment.
Learn the early symptoms of chordoma, such as persistent headaches, double vision, neck or back pain, numbness, or bowel and bladder changes. Seek medical care if these symptoms last more than a few weeks or are getting worse.
Transmission
Chordoma is not contagious, and it doesn’t spread from person to person. You can’t catch chordoma through touch, coughing, sex, or shared items.
Most chordoma happens by chance and is not inherited. In rare families, a change in a gene called brachyury can be passed from parent to child and raises the chance of developing the tumor; this is the main pattern of genetic transmission of chordoma, and sometimes the change arises on its own in a child. If several relatives have chordoma, a genetics clinic can explain how chordoma is inherited and discuss testing.
When to test your genes
Consider genetic testing if you or close relatives have chordoma, multiple family members with rare bone tumors, or very early-onset disease, as inherited changes in genes like T (brachyury) can raise risk. Testing also helps guide surveillance and surgical/radiation planning. Ask earlier if you’re of mixed ancestry or uncertain family history.
Diagnosis
Chordoma is usually suspected when ongoing pain, numbness, or changes in movement or balance don’t match a simple strain or pinched nerve. Doctors then use imaging and a tissue sample to confirm what it is and where it started. From here, the focus shifts to confirming or ruling out possible causes. Understanding how Chordoma is diagnosed can help you know what each test is looking for and why they matter.
Doctors ask about pain patterns, nerve symptoms, and how they affect walking, bowel or bladder control, or hand function. A focused neurologic exam looks for weakness, sensory changes, or reflex differences that point to where Chordoma may be pressing on nerves or the spinal cord.
MRI shows soft tissues and nerves clearly and maps the full extent of the tumor. It helps define whether Chordoma involves the spinal cord, brainstem, or nearby structures, which guides both biopsy and treatment planning.
CT highlights bone destruction and calcifications that are common in Chordoma. It complements MRI by showing how the tumor interacts with the vertebrae, sacrum, or skull base bones.
A small tissue sample is taken with a needle or during surgery to confirm the tumor type. Pathology review of this sample is essential for the diagnosis of Chordoma and to distinguish it from other bone or nerve sheath tumors.
Stages of Chordoma
Chordoma staging focuses on how far the tumor has grown or spread. Doctors assess whether it is limited to its starting site along the spine or skull base, invading nearby tissues, or has reached lymph nodes or distant organs such as the lungs. Scans like MRI or CT, chest imaging, and a biopsy guide staging, and surgical findings can add detail. Many people feel reassured knowing what their tests can—and can’t—show.
Localized disease
The tumor is confined to the bone or nearby soft tissue where it started, with no sign of spread. Early symptoms of chordoma can be mild, so staging at this point often relies on imaging.
Locally advanced
The tumor has grown into nearby structures such as nerves, blood vessels, or the base of the skull. It may be harder to remove completely, and treatment planning focuses on clear margins.
Regional spread
Cancer cells are found in nearby lymph nodes or tissues along the same region of the spine or skull base. Doctors may recommend broader imaging and combined treatments.
Metastatic disease
Chordoma has spread to distant organs, most often the lungs, liver, or other bones. Care shifts to controlling growth, easing symptoms, and maintaining function.
Recurrent chordoma
The tumor returns after treatment, either in the original area or elsewhere. Further imaging helps show the extent, and options depend on prior surgery and radiation.
Outlook and prognosis
Looking at the long-term picture can be helpful. Many people with chordoma live for years after diagnosis, but the condition tends to grow slowly and can come back in the same area even after treatment. Day to day, the biggest issues are often pain, nerve-related symptoms like numbness or weakness, and challenges tied to the tumor’s location—such as trouble swallowing if it’s at the skull base or bowel/bladder changes if it’s in the spine or sacrum. Many people find that symptoms ebb and flow with treatment cycles and recovery.
Doctors call this the prognosis—a medical word for likely outcomes. Outcomes depend on where the chordoma sits, how completely surgeons can remove it, and access to high-dose, targeted radiation. Complete removal with clean margins plus modern radiation offers the best chance of long-term control, but not every tumor is in a spot where that’s possible. Recurrence is common, so regular MRI follow-up is part of life after initial therapy. When chordoma spreads to distant sites, it’s harder to control, and medicines work variably, though clinical trials are expanding options.
Everyone’s journey looks a little different. For early symptoms of chordoma or for changes after therapy—like new weakness, worsening pain, or bladder issues—prompt evaluation can catch problems when they’re most treatable. Reported survival varies widely; many centers describe median survival in the range of several years, with a subset living a decade or longer, especially after effective local control. Talk with your doctor about what your personal outlook might look like.
Long-term effects
Chordoma can have lasting effects because it grows near critical nerves and tissues and often returns after treatment. Long-term effects vary widely and can change over time, depending on tumor location and treatments received. While early symptoms of chordoma can be subtle, the long-term picture often reflects where the tumor started—at the skull base or along the spine—and the types of treatment used. Regular check-ins over years are common to watch for changes.
Chordoma can return in the same area months or years after initial treatment. This is a major reason for long-term imaging and follow-up.
Tumors at the skull base or their treatment can affect vision, eye movements, facial feeling, hearing, or swallowing. These changes may be stable or gradually shift over time.
Tumors along the spine can lead to weakness, numbness, or balance problems. Walking and fine motor tasks may become harder if nerves remain compressed or damaged.
Sacral tumors or their treatment can cause constipation, urgency, leakage, or trouble emptying the bladder. Sexual function, including arousal or erection, may also be affected.
How is it to live with Chordoma?
Living with chordoma often means planning life around treatments, scans, and recovery periods, while also adapting to symptoms like pain, fatigue, and changes in mobility or nerve function depending on where the tumor sits. Daily routines can shift toward managing medications, physical therapy, and practical adjustments at home or work, and some may experience speech, swallowing, or bowel/bladder changes that require new strategies and specialist support. People close to you often become part of the care team—driving to appointments, helping with tasks, and sharing the emotional load—which can strengthen bonds but also bring stress that deserves attention and respite. Many find that connecting with experienced care teams and support communities helps restore a sense of control and keeps life centered on more than the diagnosis.
Treatment and drugs
Treatment for chordoma usually combines surgery and radiation to control the tumor and protect function. Surgeons aim to remove as much tumor as safely possible, and high‑dose targeted radiation (such as proton or carbon ion therapy, where available) often follows to lower the risk of regrowth. If surgery isn’t possible or the tumor returns, specialized radiation, targeted therapies in clinical trials, or, less commonly, chemotherapy may be considered; your doctor can help weigh the pros and cons of each option. Because chordoma grows near delicate nerves and the spine or skull base, care at a center with experience in chordoma is important for planning treatment and recovery. Treatment plans often combine several approaches, and regular follow‑up imaging helps track response and guide next steps.
Non-drug treatment
Care usually combines surgery, precision radiation, and supportive therapies tailored to where the tumor sits and whether it’s at the skull base or along the spine. Non-drug treatments often lay the foundation for recovery and quality of life, even when medicines or clinical trials are also part of the plan. People who notice early symptoms of chordoma may benefit when care is coordinated early at a center experienced with this rare cancer.
Surgeons aim to remove as much of the tumor as is safely possible while protecting nerves and vital structures. Approaches vary for skull base versus spinal chordoma, and may include reconstruction or spine stabilization.
This focused radiation delivers high doses to the tumor while limiting exposure to nearby brain, nerves, and spinal cord. It is often used after surgery or when surgery is not feasible for chordoma.
Highly focused beams can target small residual tumor or recurrence with millimeter precision. It is typically given in one or a few sessions and may complement other treatments.
In select centers, carbon ions can deliver very conformal, high-dose radiation for chordoma while sparing healthy tissue. Availability is limited, so referral to specialized centers may be needed.
Your genes may have an impact on how drugs work for you
Some genes shape how chordoma cells grow and how they respond to targeted therapies, so tumor testing can guide choices like EGFR or PDGFR inhibitors and eligibility for clinical trials. Your own genes also affect drug processing, influencing dose, side effects, and benefit.
Pharmacological treatments
Medicines for chordoma are usually considered when surgery or targeted radiation are not possible, the tumor has returned, or it has spread. If you were first diagnosed because of early symptoms of chordoma like pain or nerve changes, drug therapy is typically used to control growth rather than cure the disease. Not everyone responds to the same medication in the same way. Choices are guided by the tumor’s biology, prior treatments, and your overall health.
Often used first among targeted options when surgery or radiation are no longer working. It blocks growth signals (PDGFR and KIT) and may slow or stabilize tumor growth. Swelling, fatigue, and nausea are the most common side effects and blood tests help monitor safety.
Erlotinib or gefitinib may help when the tumor shows EGFR activity or after imatinib stops working. Skin rash and diarrhea are common and sometimes signal the drug is active. Doctors may adjust the dose to manage side effects.
A multi‑kinase inhibitor that can shrink or stabilize some chordomas. Blood pressure and thyroid levels need monitoring during treatment. Fatigue and mouth soreness can occur.
Another multi‑kinase inhibitor that may slow tumor growth. Hand–foot skin irritation and high blood pressure are the most frequent concerns. Regular skin care and pressure checks can help.
Genetic influences
Most chordomas happen by chance, with no inherited cause found. In the small number of familial chordoma cases, an extra copy (duplication) of a gene called T (brachyury) increases the risk. If several relatives have chordoma or someone is diagnosed at a young age, genetic counseling and, in some families, testing for this duplication may be recommended. Having a gene change doesn’t always mean you will develop the condition. Rare pediatric cases—especially a rapidly growing form—can involve changes in the SMARCB1 gene, and a genetics team can help decide who in the family might need testing or checkups. Overall, chordoma remains rare even with a genetic predisposition, but knowing your family history and discussing genetics can help tailor monitoring and care.
Is Chordoma genetic?
Genetics play a key role in chordoma risk and behavior. Most cases are sporadic, but inherited changes—especially T gene (brachyury) variants—raise risk in some families. Tumor cells often show specific genetic alterations that can guide diagnosis and targeted trials.
Pharmacogenetics—how genetics influence drug effects
In chordoma, testing the tumor’s genes can sometimes point to targeted drugs or clinical trials, especially when a growth signal is overactive or when a tumor-suppressor protein is missing. Some inherited changes, such as variants in the brachyury (T) gene, can increase the chance of developing chordoma in a family, but they usually don’t guide which drug is used. Your own genetic makeup can also shape how you handle medicines used around chordoma care, including certain targeted pills, pain medicines, and anti-nausea treatments. Genes can influence how quickly you process certain medicines, which can change side effects or benefit. For instance, some people get little relief from codeine while others feel stronger effects, so doctors may choose a different pain reliever or adjust the plan. For most medicines used in chordoma, pharmacogenetic dosing isn’t routine yet, but genetic testing for chordoma treatment—both tumor profiling and, when relevant, pharmacogenetic testing—may help personalize therapy and reduce unwanted effects.
Interactions with other conditions
Living with chordoma alongside other health issues can make day-to-day symptoms harder to sort out. Doctors call it a “comorbidity” when two conditions occur together. Back or neck arthritis, degenerative disc disease, migraines, or chronic sinus problems can mask early symptoms of chordoma, so headaches, numbness, or facial pressure may be attributed to something more common at first. When a skull base or spinal tumor affects nerves for swallowing, breathing, or vision, it can worsen conditions like sleep apnea, chronic lung disease, or eye disorders, and recovery from surgery may be slower if diabetes or heart disease is present. Treatment can interact with other illnesses too: radiation near the pituitary or thyroid may unmask hormone imbalances, and major surgery is more complex if you take blood thinners or have limited lung or heart reserve. Close, coordinated care among specialists helps align cancer treatment with existing medications and long-term conditions.
How genes can cause diseases
Humans have more than 20,000 genes, each carrying out one or a few specific functions in the body. One gene instructs the body to digest lactose from milk, another tells the body how to build strong bones and another prevents the body's cells from beginning to multiply uncontrollably and developing into cancer. As all of these genes combined are the building instructions for our body, a defect in one of these genes can have severe health consequences.
Through decades of genetic research, we know the genetic code of any healthy/functional human gene. We have also identified that in certain positions on a gene, some individuals may have a different genetic letter from the one you have. We call these hotspots "Genetic Variations" or "Variants" in short. In many cases, studies have been able to show that having the genetic letter "G" in the position makes you healthy, but having the letter "A" in the same position disrupts the gene function and causes a disease. Genopedia allows you to view these variants in genes and summarizes all that we know from scientific research, which genetic letters (Genotype) have good or bad consequences on your health or on your traits.
History
Families and communities once noticed patterns of slow-growing lumps along the spine or at the base of the skull that caused headaches, double vision, or trouble swallowing long before scans existed to show what was happening inside. A person might recall an older relative who gradually needed a cane because of back pain, or a neighbor whose nasal voice and frequent sinus trouble were never clearly explained. These everyday stories hinted at a condition we now recognize as chordoma.
First described in the medical literature as a tumor arising from remnants of the embryonic notochord, chordoma took time to be understood. Early doctors could only observe symptoms and the appearance of the growth during surgery or at autopsy. Even then, it was often mistaken for other bone or nerve tumors around the skull base and spine. Over time, descriptions became more precise as surgeons and pathologists noticed its typical locations—the clivus behind the nose and the sacrum at the base of the spine—and its tendency to grow slowly yet push on nearby nerves and tissues.
From early theories to modern research, the story of chordoma has moved step by step with advances in imaging and laboratory science. With the arrival of CT and MRI in the late 20th century, clinicians could finally see its full extent before surgery, which changed how treatment was planned. Radiation techniques also advanced, including highly focused beams designed to spare healthy brain and spinal tissue, which mattered for a tumor that often sits close to critical structures.
In recent decades, knowledge has built on a long tradition of observation. Pathology techniques confirmed chordoma’s link to notochord cells, and genetic studies identified patterns that help separate it from look‑alike tumors. Researchers also noticed that chordoma can run in rare families, which led to deeper study of inherited risk and the biology that drives these tumors. These scientific steps did not erase the challenges of treating a rare condition, but they gave clinicians a clearer map.
Despite evolving definitions, the core picture has stayed consistent: chordoma is uncommon, tends to grow slowly, and causes symptoms by pressing on nearby nerves, bone, and soft tissues. Knowing the condition’s history explains why care today relies on teams—neurosurgeons, spine surgeons, radiation experts, and pathologists—who build on past lessons to plan treatment that protects function as much as possible. As research continues, the path from those early case notes to today’s targeted approaches offers steady reasons for hope.