Chordoma diagnosis and treatment

What are the signs and symptoms of chordoma?

People experience different symptoms depending on where their tumour arises. The most common signs however are variable pain and neurological changes. At the base of the skull, it can cause headaches, neck pain, and blurred or double vision. Occasionally it may affect facial sensation or movement, speech and throat functions. If it occurs in the vertebral bodies or the bones of the sacrum or coccyx (tail bone), it generally causes persistent back ache and may cause numbness or weakness of the arms and legs and impact on bowel or bladder function. Chordoma is slow-growing and, those tumours arising in the sacrum and lower back, in particular are often significant by the time they are diagnosed. Furthermore, as the symptoms can mimic other common problems, such as back ache, and given chordoma is so rare, it is often takes a long time for a definitive diagnosis to be made, as most GPs, general physicians and surgeons during their career will never meet a patient with chordoma.

Who gets Chordoma?

Chordoma can occur in any age group, from infancy to the very elderly although it is more commonly found in individuals over the age of 40 and most typically in those in their mid-50s. Chordoma does not discriminate on age, sex, ethnicity, geography or sexual orientation. It occurs in approximately 1 in 800,000 people (incidence) and the number of people currently living with chordoma is approximately 8 per million of the population (prevalence). It is estimated that 500 people in the UK are currently living with the disease. It is slightly more common in men than women (1.6:1), and is even less common in the black African population. Chordomas at the base of the skull occur more commonly in younger people.

The majority of those who develop chordoma do not have a family history of the disease; that is, it occurs sporadically. The reason why a person develops chordoma is unknown other than the link to notochord persistence.

There are a handful of families around the world in which a number of family members have developed chordoma: that is, they have a ‘familial form’ of the disease. This is extremely rare. If 2 members of a family have chordoma, it is recommended that other family members are investigated over a period of time to see if they are developing chordoma.

How is Chordoma diagnosed and where is it treated?

Patients with chordoma should be treated at specialist centres, whether they be private or through the NHS, where a team of knowledgeable physicians and health care workers are involved in a patient`s care. The team should involve radiologists to suggest the initial diagnosis (through CT/CAT, MRI & PET Scanning), pathologists to make the diagnosis on a small sample of tissue (biopsy) removed from the tumour, surgeons to operate, and oncologists to treat after surgery with radiotherapy and drug therapies as appropriate. A rehabilitation team also plays an important role in a patient’s recovery.

The hospital where a patient is treated will vary depending on the anatomic site of the chordoma. For instance, most chordoma in the sacrum and coccyx are likely to be treated at a national bone tumour referral centre of which there are five in the United Kingdom; Royal National Orthopaedic Centre in Stanmore Middlesex which is part of the London Sarcoma Service, the Royal Orthopaedic Hospital in Birmingham, the Nuffield Orthopaedic Centre Oxford, the Robert Jones and Angus Hunt Orthopaedic Hospital in Oswestry, and the Newcastle upon Tyne Hospitals NHS Foundation Trust.

Tumours in the rest of the spine will generally be treated by a team of spinal, orthopaedic and/or neurosurgeons in specialist units, with tumours at the base of the skull treated by neurosurgeons, again in specialist units such as the National Hospital for Neurology and Neurosurgery, Queen Square London.

Those resident in Northern Ireland will usually travel to Birmingham for treatment. Residents of Scotland will usually be treated in Glasgow, Edinburgh, Aberdeen, Dundee and Inverness. Some treatments like radiotherapy or chemotherapy may be given in your local hospital under the supervision of a specialist sarcoma centre.

Types of diagnostic scans

When a chordoma is suspected, you will need magnetic resonance imaging, also called MRI, to help doctors make a diagnosis and plan for treatment. An MRI is one way to see a chordoma and how it could be affecting the tissue around it, such as muscles, nerves, and blood vessels. No matter where the tumor is located, an MRI of the entire spine should ordinarily be performed to see if the tumor may have spread to or developed in other areas of the spine.

Another imaging test called computed tomography, also called CT or CAT scan, is often recommended in addition to MRI if it is not certain whether the tumor is chordoma. CT scans of the chest, abdomen, and pelvis can be taken to establish possible spread of tumor. Imaging tests should be interpreted by a radiologist who has experience diagnosing bone tumours in particular sarcoma and chordoma.

In some cases doctors may order a positron emission tomography, or PET, scan. These are usually whole-body scans that look for widespread tumor activity. PET scans provide information about your body’s metabolic function; for cancer specifically, PET scans pick up on tumors that are rapidly using glucose (sugar). Cancer cells metabolize much more glucose than regular cells, so tumors “light up” on the scan. Because chordoma cells typically grow slowly, however, they are not always picked up as well by PET scans, so they are not widely used in chordoma diagnosis.

Alternate diagnostic approaches could well include:- Histopathology. Examination of a tissue sample by a pathologist under a microscope to identify disease. Blood test. Laboratory analysis of a blood sample. Bone Scan. Uses radioactive chemicals called radionuclides which are injected, swallowed or breathed into the body, to take images of bones. X-ray. Uses x-radiation to take images of dense tissues inside the body such as bones or tumours. Finally, A type of imaging test called angiography may be carried out pre surgery for skull based chordoma. This test shows the location of blood vessels that need to be protected during surgery.

Are biopsies recommended for suspected chordomas?

Imaging studies can show the possibility of a chordoma, but a definitive diagnosis can only be made by a pathologist who examines a sample of tumor tissue. For this reason, your medical team may consider taking a small sample of tissue from the tumor, called a biopsy, prior to surgery if the tumor can be reached safely.

Tissue samples should be evaluated by a pathologist who has experience diagnosing bone tumors. Your pathologist may test your tumor tissue for the presence of a protein called brachyury. Nearly all chordomas have high levels of brachyury, which makes it helpful for diagnosis.

For sacral and mobile spine tumors, a trocar CT-guided biopsy may be considered. Trocar CT-guided biopsy uses a CT scan to precisely direct the biopsy needle to the correct location. The biopsy needle is enclosed in a tube to keep tumor cells from spreading along the path of the needle – this is often called seeding.

Skull base tumors can be difficult to reach safely for a biopsy therefore a surgeon may opt for a biopsy to be taken during surgery. This means that a pathologist will be prepared to examine a sample of tumor tissue removed at the start of surgery and give an immediate diagnosis, and the surgical team will proceed with surgery based on that information.

Treatment

Your first treatments will have a big impact on both quality of life after treatment and the chances of the tumor coming back (recurrence). In most cases, surgery is recommended as the first treatment. Radiation therapy is generally recommended after surgery to kill any remaining tumor cells and reduce the chance of recurrence. A radiation oncologist should be part of your Multidisciplinary Team even before surgery to plan with your surgeons for any radiation treatment you will receive after surgery.

Some surgery for chordoma may impact on quality of life afterwards. Spinal surgery may affect how your bowel or bladder works or how your legs work. Surgery in the sacrum may involve the removal of nerves that work the bowel or bladder. This may lead to some people needing a colostomy or urostomy following surgery. You will be told of any potential risks involved before you have surgery.

The treatment you receive should take into account your individual situation and your doctor or clinical nurse specialist should talk you through all possible treatment alternatives. You should also have the opportunity to ask any questions you may have regarding the future implications of your surgery. Please speak to your doctor or clinical nurse specialist if you have any concerns about your treatment.

The goal of surgery for chordoma is to achieve a wide resection, completely removing the tumor in one piece (en-bloc) with wide margins, whenever possible. Removing the tumor in more than one piece should be avoided if at all possible. The surgeon must be very careful to avoid disturbing or spilling the contents of the tumor during surgery because this can cause it to re-grow or spread.

Because chordomas in the skull base often touch important nerves and blood vessels, it is not always possible to remove the tumor in one piece or with wide margins. For this reason, even if all visible tumor is removed, microscopic chordoma cells are likely to be left behind after surgery.

Radiation

It is important to have a detailed discussion with your radiation oncologist to understand the type of radiation therapy that is best for you and the short and long term side effects of the treatment you can expect. The most important aspect to appreciate about radiation is that high doses are required to control Chordoma.

Radiotherapy uses high-energy radiation beams to destroy cancer cells. It is used in the treatment of chordoma after surgery to kill off any local cancer cells that are left in the area. It will also be used after surgery if your tumour has only been partially removed. If your tumour cannot be operated on then radiotherapy alone will be the treatment of choice. 

There are newer methods of radiotherapy that are sometime used to treat chordoma. Stereotactic radiotherapy, image-guided radiotherapy (IGRT) and intensity-modulated radiotherapy (IMRT) all allow doctors to direct higher doses of radiation more accurately at the tumour and minimise the side effects of treatment.

Proton beam therapy can be effective in treating chordoma. It is a different type of radiotherapy that uses high-energy protons rather than high-energy (photon) radiation to deliver a dose of radiotherapy. Proton beam therapy can be more effective than regular radiotherapy as it can be delivered precisely to where it is needed. This reduces the risk of damage to the surrounding tissue or vital organs. Until very recently (2019) PBT (Proton Beam Therapy) has not been available in the UK; however, the NHS has paid for selected patients to receive this type of treatment overseas in the USA, often Jacksonville or selected sites in Europe. 

Today, the new NHS Proton Bean Centre at the Christie Hospital in Manchester is the first UK-based NHS high-energy proton beam therapy centre and will be joined soon by the Proton Beam Centre at UCL Hospital, London, two of the most advanced PBT sites in the world.

Or could it be…?

Benign notochordal cell tumors (BNCT) – These benign spine tumors can be seen on an MRI or CT scan and can sometimes look like chordoma. However, BNCT stay confined within the bone and do not spread into other tissues like chordomas can. If you have a suspected BNCT, you should have an MRI or CT scan from time to time to look for changes. Images should be reviewed by a radiologist with expertise in bone tumors.

Chondrosarcoma – This type of bone cancer looks very similar to chordoma on CT and MRI. A specific type of MRI called diffusion MRI, or D-MRI, may help doctors tell the difference. Sometimes it is only possible to know a tumor is not chondrosarcoma after having a biopsy. Skull base chondrosarcomas usually respond better to radiation than skull base chordomas and have a better prognosis.

Ecchordosis physaliphora (EP) – A benign, congenital tumor that forms from notochordal remnants and can be found anywhere along the spine. Like BNCTs, they can sometimes look like chordoma but they do not usually spread into other tissues like chordomas can.

Giant cell tumor of the bone (GCTB) – These tumors look somewhat different on imaging tests than chordoma and tend to be located in the upper part of the sacrum.

Schwannoma – These tumors damage the bone differently than chordomas do, look different on imaging tests, and do not spread to nearby muscles or joints.

Other tumors of the spine and skull base – These include other bone cancers such as Ewing sarcoma and osteosarcoma, as well as a type of nervous system tumor called a myxopapillary ependymoma. Lymphoma, a cancer of the body’s immune system, and multiple myeloma, a blood cancer, can also cause tumors in these areas.

Metastasis (spread) of another cancer – Sometimes cancers in other places in the body can spread to the bones of the spine or skull base.

This information is provided for general guidance only and is not intended to be a substitute for specialist and professional medical advice, diagnosis or treatment. It is crucial to seek the advice of your GP, oncologist or other medical specialist with any questions you may have regarding your concerns and/or medical care. Contact us to find out more.

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