Chordoma Foundation

Understanding chordoma in children and young adults

Chordoma in children and young adults is rare, as the disease is most often diagnosed in people in their 50s and 60s. Patients under the age of 20 years old make up only 5 percent of all chordoma cases. The skull base and cervical spine are the most common locations of chordoma in children and young adults, and the number of females diagnosed is slightly higher than the number of males.1 2 3 As discussed here, children and young adults are considered to be from birth to 35 years old.

children and young adults with chordoma

The WHO Classification of Soft Tissue and Bone Tumours (5th edition, April 2020) defines the following three types of chordoma. These types are based on the histological appearance and characteristics of the tumor cells.

1. Conventional chordoma is the most common form of chordoma. It is composed of a unique type of cell whose appearance is often described as “bubbly”. Expression of the brachyury protein is a hallmark of chordoma and distinguishes conventional chordoma from other tumors like chondrosarcoma. Chondroid chordoma, previously a separate type, is now considered to be a kind of conventional chordoma.

2. Dedifferentiated chordoma is very rare, occurring in 5 percent or less of patients. This type appears as a mix of conventional chordoma cells that express brachyury and cells that resemble high-grade sarcoma and do not express brachyury. It is more aggressive, generally grows faster, and is more likely to metastasize than conventional chordoma.

3. Poorly differentiated chordoma was officially recognized for the first time in the most recent edition of the WHO classifications. A defining characteristic of poorly differentiated chordoma is deletion of a gene called SMARCB1, or INI1. The gene deletion can be detected through genomic testing, and pathologists can also determine loss of the SMARCB1/INI1 protein by staining the tumor cells. It is more common in younger patients as well as those with skull base and cervical tumors. This type is very rare, is usually more aggressive and faster-growing than conventional chordoma, and can have different treatment options.

Learn more about where chordoma tumors form, what causes them, and risk factors »

Patient Navigation ServiceRequest help

If you or your child has been diagnosed with chordoma, Chordoma Foundation Patient Navigators can help you get the best possible care. Our Patient Navigators are available by email and phone, Monday through Friday from 8 AM to 5 PM EST.

Contact a Patient Navigator »


Diagnosis of chordoma in children and young adults

If you or your child might have chordoma, the most important thing to do is to find a medical center with a team of experts who have experience caring for chordoma patients. For diagnosis, this team should include a radiologist and pathologist with chordoma experience.4 5

While imaging tests like an MRI or CT scan can show the possibility of a chordoma, a definitive diagnosis can only be made by a pathologist who examines a sample of the tumor tissue under a microscope. The pathologist will perform immunohistochemistry (IHC) testing for protein markers, such as brachyury, which help them distinguish chordoma from other types of tumors. The process of removing tumor tissue for analysis is called a biopsy.

Learn more about diagnosing chordoma »

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Considerations for pediatric and young adult patients

Pathologists also determine the subtype of chordoma with IHC testing. The subtype is determined by how the cells look under a microscope, and a specific kind of IHC test can also be done to help determine whether the tumor is poorly differentiated. This test looks to see whether a protein called INI1 is present or absent in the tumor cells. INI1 is typically absent in poorly differentiated chordoma and on rare occasion in conventional or dedifferentiated tumors as well.1 4 This is also called INI1 loss, or INI1 negative.

The Chordoma Foundation Medical Advisory Board suggests that chordoma patients under 35 years of age, or whose tumors are growing unusually fast, have their tumors tested for loss of INI1, either through immunohistochemistry (IHC) or genomic testing. If tissue is not available for testing, the possibility of a biopsy to obtain tissue for this testing should be discussed with a doctor who has experience treating chordoma, carefully weighing the potential risks of biopsy. Interpretation of the testing should be done by a pathologist who has experience diagnosing chordoma.


An experimental treatment saved the life of Frankie Fernandes, who was diagnosed with chordoma at age five.

Chordoma is less common in patients under the age of 35 than it is for older adults, and it affects very important and complex parts of the body. Appropriate treatment requires very specialized care provided by multiple types of doctors. This team approach involving multiple specialists is called multidisciplinary care. It is typically only found at larger hospitals, sometimes called referral centers, which see large numbers of patients.

Experts recommend your or your child’s chordoma treatment team include the following specialists:

  • Pathologist
  • Radiologist
  • Surgeon
  • Radiation oncologist
  • Medical oncologist
  • Palliative and pain medicine specialist

The Chordoma Foundation has created a Doctor Directory as an informational resource for patients and caregivers. The Directory includes the names of physicians who have given their permission to be identified publicly and who meet inclusion criteria developed by the Chordoma Foundation’s Medical Advisory Board.

Visit the Doctor Directory »

Pediatric vs. chordoma expertise

In the case of chordoma in children 18 years old and younger, it is important that the team of specialists treating your child includes both chordoma specialists and pediatric specialists. There are very few doctors who have expertise with pediatric chordoma specifically. Chordoma experts suggest consulting with doctors with chordoma experience first and then talking with those doctors about how they will work together with a pediatric specialist.6

Pediatric treatment also requires facilities and support staff specific to children and adolescents. Operating rooms, recovery and intensive care units, and infusion clinics all have specialized equipment for children. In addition, the nurses, support staff, and other resources in pediatric care units have specialty training and in many cases can offer services that are not available to patients elsewhere.6

Conventional chordoma in children and young adults

In most cases of conventional chordoma in children and young adults, surgery is recommended as the first treatment. The goal of surgery is to remove as much of the tumor as possible without causing serious side effects. Radiation therapy is generally recommended after surgery to kill any remaining tumor cells,5 although in some cases radiation may be given both before and after surgery.

High doses of radiation are required to control chordoma. Specifically, a dose of at least 74 GyE (Gray Equivalents) is recommended. This dose should be given to any visible tumor as well as any areas where doctors believe there may be microscopic tumor remaining after surgery.5

What matters most about a radiation treatment plan is that it delivers this high dose to the areas that need it while also minimizing the dose that reaches important structures and healthy tissue nearby. For pediatric and young adult patients, it is also important to limit the total dose of radiation that goes into the rest of the body, to help reduce the risk of secondary cancers later in life.

Particle therapy is most often recommended for chordoma because it can deliver very high doses of radiation to the tumor while minimizing doses to nearby areas and the rest of the body.5 Proton beam therapy and carbon ion therapy are two types of particle therapy. Carbon ion is only available at a small number of centers in Europe and Asia. In some cases, radiation oncologists may use a combination of proton and photon therapy.

Poorly differentiated and dedifferentiated chordoma

Chordomas classified as poorly differentiated or dedifferentiated may have additional treatment options that are recommended along with, or in place of, surgery and radiation for initial diagnosis. There is some published evidence that conventional sarcoma chemotherapy regimens may be effective in treating poorly differentiated and dedifferentiated chordoma.6 7 8 9 These regimens include the drugs ifosfamide, carboplatin/cisplatin, and etoposide (sometimes called the “ICE” protocol); vincristine; doxorubicin; and cyclophosphamide, or some combination of these.6 7 8 9 A new class of targeted therapy called EZH2 inhibitors, including the drug tazemetostat, may also be used.

There are also clinical trials that may be options for patients with poorly differentiated and dedifferentiated tumors. Visit our Clinical Trials Catalogue to learn more. There are trials noted specifically for pediatric patients, while the trials listed for adults are enrolling patients over the age of 18 years old, and in some cases will accept patients as young as 16 years old. Participation in a clinical trial is recommended whenever possible for patients with poorly differentiated chordoma.1

If your child has an upcoming surgery

If your child has an upcoming chordoma surgery, you can consider donating a sample of their tumor tissue to chordoma researchers. By studying pediatric chordoma tumor samples, scientists can learn so much about pediatric chordoma and how to treat it. We can help facilitate this process through our Tumor Donation Program.


Chordoma Foundation Patient Navigation Service

Chordoma Patient Navigation Service
Chordoma patient Madison Jones with her father, Chris, and step-mother, Angela.

The Chordoma Foundation serves as a resource for chordoma patients and families around the world, at any stage of their journey with chordoma. Our free and confidential Patient Navigation Service helps individuals facing chordoma overcome barriers to getting the best care possible – whether it’s finding the right doctors, understanding treatment options, or getting emotional support, Chordoma Foundation Patient Navigators are here to assist you.

Our Patient Navigators can:

  • Answer questions about chordoma in children and young adults
  • Provide information on treatment guidelines, experienced physicians, and treatment centers
  • Identify and provide information on clinical trials open to chordoma patients
  • Give referrals to programs and organizations that offer travel and lodging assistance, co-pay relief, and other benefits
  • Support requests and appeals to insurance companies
  • Connect chordoma patients and caregivers with others in the chordoma community
Request help from a Patient Navigator »


Chordoma Connections

The Chordoma Foundation’s private online community is a place where individuals affected by chordoma can come together to exchange information, share experiences, and support one another. Within the community, there are two private groups, one for caregivers of pediatric and adolescent patients and another for young adult patients and their significant others. Both private groups were created to meet the unique needs of the pediatric and young adult members of our chordoma community.

Join Chordoma Connections »


Chordoma Foundation Peer Connect program

Our free, confidential peer-to-peer support program connects anyone touched by chordoma with another person whose experiences with chordoma are similar. Trained Peer Guides are available to support patients who are newly diagnosed, patients in active treatment, survivors, caregivers, family members, or friends.

If you’re interested in talking to someone who has been through a similar chordoma journey, Peer Connect can help. Once registered, we will match you with a trained Guide who has had a similar experience with chordoma and who has had to face many of the same challenges that you now face. All Guides are trained to provide a listening ear, serve as a sounding board, and, if requested, suggest helpful information and resources.* The connection between you and your assigned Guide may involve only a few phone calls, or it may develop into a longer relationship, whatever is most helpful for you.

Benefits of the Peer Connect program

  • Feel connected with others who understand your thoughts and feelings
  • Establish trusting relationships
  • Explore cancer resources
  • Gain coping and communication skills that can be helpful in advocating for your or your child’s treatment
  • Be heard and supported
Get matched with a Peer Guide »

*Peer Guides do not serve as health professionals and cannot provide medical advice. By participating in the Chordoma Foundation Peer Connect program, you acknowledge that you understand the program is for support purposes only and does not provide medical, legal, or psychological advice, diagnosis, or treatment. The Peer Connect program may provide helpful health-related information, but it is not intended to substitute for professional advice, diagnosis, or treatment.

Adolescent and young adult virtual group

Led by a young adult chordoma survivor, our monthly virtual group for adolescents and young adults offers comfort and camaraderie to patients and survivors ages 16 to 30 years old.

Chordoma Survivors Facebook group

Newly diagnosed chordoma patients, survivors, and family members can connect with others in a closed/private support and survivors group on Facebook that is hosted by members of the chordoma community. This close-knit community exists to help answer questions, share personal experiences, offer guidance, and serve as encouragement throughout your journey with chordoma. There are over 2,400 members in 83 countries in this private/closed forum and when you join you’ll be asked to answer a few simple questions that only group moderators can see. Because this is a private group, posts within the group are visible only to group members.

While many members of this Facebook group are involved with the Foundation as volunteers and community advisors, the group is privately run and separate from the Foundation.


To ensure that the youngest members of our community benefit from the rapid advances being made for chordoma – and cancer more generally – the Chordoma Foundation is making pediatric chordoma research a top priority.

By collecting precious pediatric chordoma tumor samples for research, testing drugs against pediatric chordoma tumor models, and finding new vulnerabilities in pediatric chordoma, our research is accelerating the development of better treatments and improving outcomes for this underserved patient population.

Fundraising for pediatric chordoma research

Families touched by chordoma can undertake fundraising efforts to help ensure better treatments and outcomes for pediatric chordoma patients. We’re grateful to the following families, whose ongoing fundraisers are making a difference for children who come next:

If you’d like to set up a fundraiser or a named fund to support pediatric chordoma research at the Chordoma Foundation, get in touch.

Reviewed May 2018 by Gregory Cote, MD

References and further information

  1. Shih AR, Cote GM, Chebib I, et al. Clinicopathologic characteristics of poorly differentiated chordoma. Mod Pathol. February 2018. doi:10.1038/s41379-018-0002-1.
  2. Hoch BL, Nielsen GP, Liebsch NJ, Rosenberg AE. Base of Skull Chordomas in Children and Adolescents. The American Journal of Surgical Pathology. 2006;30(7):811-818. doi:10.1097/01.pas.0000209828.39477.ab.
  3. Sebro R, DeLaney T, Hornicek F, et al. Differences in sex distribution, anatomic location and MR imaging appearance of pediatric compared to adult chordomas. BMC Med Imaging. 2016;16(1):53. [PubMed]
  4. Antonelli M, Raso A, Mascelli S, et al. SMARCB1/INI1 Involvement in Pediatric Chordoma. The American Journal of Surgical Pathology. 2017;41(1):56-61. doi:10.1097/pas.0000000000000741.
  5. Stacchiotti S, Sommer J. Building a global consensus approach to chordoma: a position paper from the medical and patient community. The Lancet Oncology. 2015;16(2):e71-e83. doi:10.1016/s1470-2045(14)71190-8.
  6. Chordoma Foundadtion . 2018 ICCC Ask the Experts panel. YouTube. Published March 24, 2018.
  7. Al-Rahawan MM, Siebert JD, Mitchell CS, Smith SD. Durable complete response to chemotherapy in an infant with a clival chordoma. Pediatr Blood Cancer. 2011;59(2):323-325. doi:10.1002/pbc.23297.
  8. Dhall G, Traverso M, Finlay JL, Shane L, Gonzalez-Gomez I, Jubran R. The role of chemotherapy in pediatric clival chordomas. J Neurooncol. 2010;103(3):657-662. doi:10.1007/s11060-010-0441-0.
  9. Lountzis NI, Hogarty MD, Kim HJ, Junkins-Hopkins JM. Cutaneous metastatic chordoma with concomitant tuberous sclerosis. Journal of the American Academy of Dermatology. 2006;55(2):S6-S10. doi:10.1016/j.jaad.2005.08.061.


The information provided herein is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your or your child’s physician about any questions you have regarding your or your child’s medical care. Never disregard professional medical advice or delay in seeking it because of something you have read on this Website.

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