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.
There are four subtypes of chordoma, two of which — poorly differentiated and dedifferentiated — are more often found in children and young adults.
1. Conventional (or classic) chordoma is the most common form of chordoma. It is composed of a unique cell type that resembles notochordal cells and can have areas of chondroid appearance.
2. Poorly differentiated chordoma is a subtype that has recently been identified in the medical literature but is not yet recognized by the World Health Organization (WHO). It can be more aggressive and faster growing than conventional chordoma and is characterized by a loss of a protein called INI1. Poorly differentiated chordoma is more common in pediatric and young adult patients, and in skull base and cervical tumors.
3. Dedifferentiated chordoma is more aggressive and generally grows faster than the other types of chordoma, and is more likely to metastasize than conventional chordoma. It can also have a loss of the INI1 protein, but this is not common. This type of chordoma is rare, occurring in only about 5 percent of patients, and is more common in pediatric patients.
4. Chondroid chordoma is a term more commonly used in the past when it was difficult to distinguish conventional chordoma from chondrosarcoma. This is no longer a problem because brachyury is expressed in nearly all conventional chordomas, making them easier to distinguish from cartilaginous tumors like chondrosarcoma that do not express brachyury. There is no evidence that chordomas with a chondroid appearance behave differently than conventional types that do not have this appearance.
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
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.
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 treatment team include the following specialists:
- Radiation oncologist
- Medical oncologist
- Palliative and pain medicine specialist5
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.
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 and chondroid chordoma
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 cells5, 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 doxorubicin, ifosfamide, etoposide, vincristine, and cyclophosphamide.6 7 8 9
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
Chordoma Foundation 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
- 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
Chordoma Connections is the Chordoma Foundation’s private online community 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.
Chordoma Foundation Peer Connect program
The Chordoma Foundation has a free, confidential peer-to-peer support program that 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.
Get matched with a Peer Guide
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
*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.
Chordoma Survivors Support Group on Facebook
Newly diagnosed patients, chordoma survivors, and family members can connect with others in the chordoma community through a private Facebook group. This close-knit group exists to help answer questions, share personal experiences, and serve as encouragement throughout your journey with chordoma. Email approval from a group moderator is required simply to protect the privacy of the more than 1,800 members and prevent spammers from entering the private Facebook space. Please send an email briefly describing your relationship with chordoma to firstname.lastname@example.org, and you will receive a reply from a group administrator. Please note: While many members of this Facebook group are involved with the Chordoma Foundation as volunteers and community advisors, the group is privately run and separate from the Foundation.
The Drew Barker-Wright Charity
The Drew Barker-Wright Charity is a UK-based organization set up in memory of Drew, who passed away in February 2017 after a 16-week battle with chordoma of the clivus. He was 4 years old. Founded by his parents, it is a legacy for their only child.
DBW Charity has three main aims:
- To work with existing organizations and projects to help fund specific research into pediatric chordoma; supporting the development of targeted drugs to treat children affected by this disease.
- To provide financial support to UK-based families of newly diagnosed children aged 0 to 16, to help them through the shockwave of diagnosis.
- To supply gifts to the bedside of newly diagnosed children ages 0 to 16 in the UK.
For more information or to find out how to apply for financial support, please visit the Drew-Barker Wright Charity website.
Any type of cancer in children can differ in important ways from the same type of cancer in adults, and, therefore, may respond differently to treatment. It is important to understand the unique behavior and biology of pediatric and young adult chordomas in order to guide the development of more effective treatments for this important population.
A great deal has been learned about adult chordoma in the past decade, but pediatric chordoma, in particular, has remained understudied and there is still much that is not known about it. The Chordoma Foundation is working to change that, and in 2017 launched a Pediatric Initiative to advance the discovery of better treatments for pediatric chordoma. The initiative will accomplish this in three ways:
- Develop pediatric chordoma disease models to ensure that pediatric chordoma is represented in chordoma research projects
- Compare biology of pediatric and adult chordoma to determine whether different treatment approaches are needed for pediatric chordoma
- Initiate and support clinical trials with promising therapies for pediatric chordoma patients
Reviewed May 2018 by Gregory Cote, MD.
|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.|