Chordoma

Diagnosis and Tests

To diagnose chordoma, a healthcare professional may perform a physical exam, review your medical history, and order imaging or lab tests.

Imaging tests help show the size and location of the tumor:

• CT scans – These are useful for detecting bone changes such as holes or weak spots. Chordomas may appear as light or dark areas surrounded by damaged bone. A contrast dye may be used to make certain parts of the image clearer.

• MRI scans – MRI provides detailed images of the tumor and surrounding tissues, including blood vessels and nerves. Chordomas usually appear as bright spots with darker internal sections.

Biopsy

A biopsy removes a small sample of tissue for lab testing to confirm the diagnosis. Because chordomas can resemble other conditions on scans, a biopsy is essential.

Tissue samples may be collected by:

• Needle biopsy – A thin needle is inserted through the skin to remove small tissue samples. This may not always be possible for chordomas in the skull base.

• Surgical biopsy – A surgeon makes an incision to access the tumor and remove a tissue sample for testing.

The biopsy must be carefully planned to avoid complications during later surgery. It’s best to seek care at a medical center experienced in treating chordoma.

Pathology tests look for signs such as:

• Cells with bubbly interiors, called physaliphorous cells

• Proteins commonly found in chordoma, such as brachyury, S100, vimentin, and pancytokeratins

Genetic Testing

Genetic testing is not routinely used but may be recommended for families with a history of chordoma or for children and young adults with the condition.

Treatment

Chordoma treatment depends on the tumor’s size, location, and whether it has affected nerves or nearby tissues. Surgery is typically the first and most important step, often followed by radiation therapy.

If the tumor can be completely removed, this offers the best chance for a cure. However, because chordomas grow close to critical areas like the brain and spine, full removal is sometimes difficult.

Surgery

The main goal of chordoma surgery is to remove as much of the tumor as possible in one piece, called en bloc resection. This approach lowers the risk of recurrence and cancer spread.

Types of surgery include:

• Skull base chordoma surgery – Surgeons may reach the tumor through the nose using an endoscope, known as endoscopic skull base surgery. In some cases, open surgery at the back of the head or neck may be necessary.

• Mobile spine and sacral chordoma surgery – Surgeons remove the tumor and surrounding bone or tissue. In some cases, the entire sacrum may be removed, a procedure called sacrectomy.

Complications can include infection, blood clots, nerve damage, or leakage of cerebrospinal fluid. Possible symptoms may include double vision, numbness, bladder or bowel changes, or walking difficulties.

Radiation Therapy

Radiation therapy uses powerful energy beams, such as X-rays, protons, or carbon ions, to destroy cancer cells.

Modern techniques allow higher doses of radiation to target the tumor while protecting nearby brain and spinal tissues. Common approaches include:

• Proton therapy

• Intensity-modulated radiation therapy (IMRT)

• Stereotactic radiosurgery

• Stereotactic body radiotherapy

• Carbon ion therapy

Possible side effects include tiredness, skin irritation, headaches, hormone changes, and vision or hearing issues. There is also a small risk of developing a secondary cancer years later.

Targeted Therapy Medicines

Chordoma usually does not respond well to traditional chemotherapy. Targeted therapy focuses on specific proteins or genes that help cancer cells grow.

These treatments may be used for metastatic or recurrent chordoma, sometimes as part of a clinical trial.

Examples include:

• Imatinib

• Dasatinib

• Sunitinib

Other possible options:

• Imatinib combined with sirolimus or chemotherapy

• Erlotinib

• Lapatinib

• Sorafenib

Side effects may include tiredness, nausea, rash, diarrhea, swelling, and changes in thyroid or kidney function.

Treatments Being Studied

Researchers are studying new treatments for chordoma, including:

• Checkpoint inhibitors – Drugs that help the immune system recognize and attack cancer cells

• Brachyury-targeted therapies – Vaccines and medicines that target the brachyury protein, which is almost always found in chordoma cells