Learn More About Pediatric Chordoma 

Diagnosing chordoma is not always easy. It can be confused with other types of tumors. Once you have been given a diagnosis, it can be helpful to get a second opinion to confirm the diagnosis before making treatment decisions. As with any rare cancer, second and even third opinions are an important and reasonable step to take. Getting the correct diagnosis from the start is critical to being able to find and choose the best treatment. Tests to expect When a chordoma is suspected, your child will need magnetic resonance imaging, also called MRI, to help doctors make a diagnosis and plan for treatment. An MRI is the best way to see a chordoma and how it is 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 be performed to see if the tumor may have spread to or developed in other areas of the spine. Chordoma is best seen on an MRI . Another imaging test called computed tomography, also called CT or CAT scan, is recommended in addition to MRI if it is not certain whether the tumor is chordoma. CT scans of the chest, abdomen, and pelvis are recommended to make sure there is no spread of tumor. Imaging tests should be interpreted by a radiologist who has experience diagnosing bone tumors. 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 diagnosing chordoma. 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 under a microscope. For this reason, the 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 the tumor tissue for the presence of a protein called brachyury. Nearly all chordomas have high levels of brachyury, which makes it helpful for diagnosis. Skull base tumors can be difficult to reach safely for a biopsy, so your surgeon may opt for a biopsy 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. This page features content originally published by The Chordoma Foundation and is reproduced with permission.

Chordoma tumors develop from cells of a tissue called the notochord, which is a structure in an embryo that helps in the development of the spine. The notochord disappears when the fetus is about 8 weeks old, but some notochord cells remain behind in the bones of the spine and skull base. Very rarely, these cells turn into cancer called chordoma. What causes notochord cells to become cancerous in some people is still not fully known, but researchers are working to learn the answer. There are no known environmental, dietary, or lifestyle risk factors for chordoma. The vast majority of chordomas occur at random and not as a direct result of an inherited genetic trait. The World Health Organization (WHO) 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. This page features content originally published by The Chordoma Foundation and is reproduced with permission.

The Chordoma Foundation serves as a resource for chordoma patients and families around the world, at any stage of their journey with chordoma. They offer various services which can be of help: Patient Navigation Service Their patient navigators can answer questions about chordoma and provide information on treatment and potential trials that may be available to you. They can also connect you with others in the worldwide chordoma community. Request help from a patient navigator Chordoma Connections A private online community where parents affected by pediatric chordoma can come together to exchange information, share experience, and support one another. Register with Chordoma Connections 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 experience with chordoma is similar. If you’re interested in talking to someone who has been through a similar chordoma journey, Peer Connect can help. Once registered, you will be matched 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. Get matched with a peer guide This page features content originally published by The Chordoma Foundation and is reproduced with permission.

A great deal has been learned about adult chordoma in the past 10 – 15 years. Much of this knowledge has come from the study of tissue and blood samples from patients with chordoma. The generation of several chordoma cell lines has also been extremely useful to study chordomas. A cell line is a population of genetically identical cancer cells that have been grown in the laboratory after taking a sample of cells directly from a patient. A cell line is referred to as a model of disease and allows researchers to study biological processes unique to one type of cancer. Tissue and blood samples from chordoma patients have so far helped to: identify specific proteins and genes that play a key role in the growth of chordomas, for example, the brachyury protein identify new targets for drug development, for example, how to “silence” the brachyury protein screen over 1,000 drug compounds that might be effective in the treatment of chordoma determine which of these drug compounds should be taken forward to test in patients in clinical trials Whilst many of the findings about adult chordoma will be relevant to pediatric chordoma, there is still a lot that we don’t yet know about it and it remains understudied. To advance research into pediatric chordoma, tissue and blood samples are needed from children with chordoma. When a tissue sample is taken from your child it should only be for helping to diagnose and/or treat your child appropriately. Sometimes, there might be some of the sample that is surplus to these requirements – this can be a very valuable resource for research, but doctors and researchers can only use such a sample with the consent of a parent or guardian. A doctor may approach you before your child is due to have surgery and ask for your consent to take a sample from your child while they’re asleep during surgery. Or they may ask for your consent to take a little extra blood for research purposes when a blood sample is being taken for other purposes. This can seem inappropriate, or even a little offensive, when your minds and hearts are so focussed on getting your child (and indeed your whole family) through an extremely challenging time. It can be very difficult to think about this when you are struggling with so much else. Unfortunately, however, if your consent is not obtained prior to surgery it may mean that some important research into pediatric chordoma cannot be carried out. This page features content originally published by The Chordoma Foundation and is reproduced with permission.

The most common signs of chordoma are pain and neurological changes. Skull base chordomas most often cause headache, neck pain, or double vision. If large enough, they may affect facial sensation or movement, voice, speech, and swallowing function. Chordomas of the spine and sacrum can cause changes in bowel and/or bladder function, pain, aching, tingling, numbness, or weakness of the arms and legs. Often, sacral chordomas do not cause symptoms until the tumor is quite large, and sometimes a lump is the first sign of a sacral chordoma. This page features content originally published by The Chordoma Foundation and is reproduced with permission.

Treating chordoma begins right at diagnosis. A team of experts will be established and begin the discussion of how to treat your child’s chordoma. The team may include: a pediatric oncologist or pediatric neuro-oncologist (cancer specialist) a pediatric surgeon or neurosurgeon a pathologist a radiologist Nursing team A social worker A psychologist or counselor A child life specialist a pharmacist a dietitian Intervention specialists; such as physical therapists, occupational therapists, speech therapists Treatment options Due to the rarity of chordoma, treatment options are usually tailored to the child’s situation – no standardized treatment protocol exists. Chordoma in children can grow quickly, although this is not always the case. In order to try and prevent or prolong the time to relapse/recurrence, treatment of chordoma must be aggressive. The treatment of chordoma usually involves a combination of surgery, radiation and chemotherapy. Based on the type of chordoma, it may involve all three, but it is completely dependent on type, age and location. Your child’s doctor and members of their medical team will discuss options with you first. Don’t be afraid to write down what they are saying and ask questions if you don’t understand. They will be more than willing to help. The members of the medical team will work together to ensure your child gets the best care. The medical team will meet regularly to discuss and plan your child’s care. You can also call a “care conference” at any time to meet with your child’s medical team. Surgery It might be recommended by the medical team that your child has surgery to remove as much of the chordoma as possible. There are times when surgery might not be possible because of the location of the chordoma, your specialists will recommend other treatment options. Depending on the location of the tumor, an ENT (Ear, Nose and Throat Specialist) may be called in to help during surgery. This is because some skull base tumors are hard to reach. Surgery may entail going in through the back of your child’s mouth or nasal passage to access the tumor. They may also go in behind your child’s ear to perform surgery as well. If there is a lot of swelling in the brain or ventricles, the doctors may want to place an EVD (external ventricular drain). This will help drain any cerebrospinal fluid that may be causing pressure on your child’s brain from extra fluid. Radiation Radiation may be recommended after surgery. The aim of radiation is to kill off any cancer cells that have been left behind after surgery with the aim of lowering the risk of the chordoma coming back. Treatment of chordomas typically requires a high dose of radiation, but this may be lower if the tumor has been removed. The decision to give radiation will be based on a number of factors: your child’s age location of their chordoma type and size of their chordoma success of the surgery Radiation can cause side effects so your specialists will advise whether it’s the right choice for your child. If radiotherapy is used to treat tumors in the skull, side effects may include localized hair loss, headaches, blurry vision, mouth and throat irritation, changes to smell, taste and hearing, and difficulty swallowing. For tumors in the spine, radiotherapy may cause changes in bowel and bladder function. Doctors are looking at new ways of giving radiation to reduce these side effects, while still treating the chordoma. Proton beam radiation One of the newer ways of giving radiation uses a different type of beam called a proton beam. Compared with conventional radiation, proton beams deliver a higher dose of radiation straight to the cancer cells and less to the surrounding healthy cells. As proton beam therapy is more targeted than conventional radiation, it can be used to treat areas close to critical parts of the body such as the spinal cord, with less damage to the nearby healthy tissue. Not all children’s hospitals have access to proton beam radiation. If radiation is an option, don’t be afraid to ask for a transfer to another hospital. Chemotherapy If your child has poorly differentiated or dedifferentiated chordoma, chemotherapy may be recommended along with, or in place of, surgery and radiation. Chordoma is generally a slow-growing cancer which means it usually does not respond to chemotherapy (which attacks rapidly dividing cells). However, there is some published evidence that chemotherapy may be effective in treating younger children with poorly differentiated and dedifferentiated chordoma using drugs used in the treatment of sarcoma, another type of bone cancer. These include the drugs doxorubicin, ifosfamide, etoposide, vincristine, and cyclophosphamide, which work in different ways to kill cancer cells or stop them replicating. Chemotherapy will often be given intravenously (via the veins). If given intravenously, your child may have a PICC line or a port placed to make it easier to access the blood system. A port is a narrow tube inserted into a major blood vessel in the chest, which makes it easier to deliver chemotherapy. Central lines will be removed once treatment is finished. Targeted therapy Targeted therapies are drugs that specifically target cancer cells. By acting to block the growth and spread of cancer cells specifically, targeted therapies are more precise than conventional chemotherapy and cause less damage to healthy cells. Targeted therapies can work by: stopping the cancer cells from growing helping the immune system find and destroy cancer cells halting the development of the tumor’s blood supply causing cancer cell death Research is ongoing to find targeted therapies that work for chordomas. So far, research has identified a number of genes specific to chordomas that could potentially form the basis for targeted therapies. While targeted therapies are still in the early stages of development, the results so far are promising. Some targeted drugs that are being investigated for chordoma include imatinib, erlotinib, sunitinib, afatinib. These drugs are all currently used to treat other types of cancers and studies are now looking at how well they work in chordoma. Clinical trials As pediatric chordoma is rare, there usually aren’t many clinical trials of new drugs open to children. Your doctor will let you know if there is a clinical trial that may be suitable for your child. As of July 2021, there are currently six clinical trials in the USA open to enrolment for children with chordoma. Four of these are investigating different treatments for chordoma. You can read more about the trials by clicking on the link below: Children and Adults With Chordoma Nivolumab With or Without Stereotactic Radiosurgery in Treating Patients With Recurrent, Advanced, or Metastatic Chordoma Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Patients for Studies of Cancer-Susceptibility Genes Nivolumab and Relatlimab in Treating Participants With Advanced Chordoma https://www.clinicaltrials.gov/ct2/show/NCT04416568?recrs=abf&cond=Chordoma&age=0&draw=2&rank=5 Nivolumab (Opdivo®) Plus ABI-009 (Nab-rapamycin) for Advanced Sarcoma and Certain Cancers This page features content originally published by The Chordoma Foundation and is reproduced with permission.

Yes, your child can beat this, I know some that have. Unfortunately, because chordoma is so rare, there are not many statistics related to pediatric chordoma survival rates and there is no definitive answer that can be given for this. You must also take into consideration a few factors: Type of chordoma – INI-1-negative chordomas (most of which are poorly differentiated and dedifferentiated chordoma) are generally more difficult to treat successfully than other types Age at diagnosis – the poorest outcomes are generally seen in children under 5 years of age The amount of cancer cells remaining following surgery – the removal of the cancer must be as complete as possible to improve the outcome Whether the cancer spreads elsewhere in the body – this is more common in children under 5 years of age Please know that your child’s medical team will do everything possible for your child and for you. Because every situation is different, your medical team may not give you a prognosis. I know this is hard to hear, but keep asking questions and make sure they explain things in a way that you understand. This page features content originally published by The Chordoma Foundation and is reproduced with permission.

The Chordoma Foundation gave me a starting point when our daughter was diagnosed. They have patient navigators you can talk to, names of specialists to turn to and the latest research on pediatric chordomas.

Chordoma is a rare type of cancer that occurs in the bones of the skull base and/or spine. It is part of a group of malignant bone and soft tissue tumors called sarcomas. Chordomas account for about 3 percent of all bone tumors and about 20 percent of all primary spinal tumors. A chordoma tumor usually grows slowly, often without symptoms at first. Chordomas are complicated tumors to treat due to the involvement of critical structures such as the brain stem, spinal cord and important nerves and arteries. They can also come back, or recur, after treatment - usually in the same place as the first tumor. This is called a local recurrence. In about 30 to 40 percent of patients, the tumor eventually spreads, or metastasizes, to other parts of the body. Chordoma is diagnosed in just 1 in 1,000,000 people per year. That means that about 300 patients are diagnosed with chordoma each year in the United States. Chordoma is diagnosed most often in people in their 50’s and 60’s, but it can occur at any age. Skull base chordomas occur more frequently in younger patients, while spinal chordomas are more common later in life. Skull base chordomas: About 30 percent form within the center of the head in an area called the skull base - usually in a bone called the clivus. Skull base chordomas are sometimes called brain tumors because they grow inside the skull toward the brain; however, they do not actually develop from brain cells. Sacral chordomas: About 50 percent of all chordomas form at the bottom of the spine, in the bones called the sacrum. Mobile spine chordomas: The remaining 20 percent of chordomas form in the spine at the level of the neck, chest, or lower back. These areas are the cervical, thoracic and lumbar spine. If chordomas spread to other parts of the body (metastasize), the most common places they spread to are the lungs, liver, bones or lymph nodes. Metastasis usually only occurs when the primary tumor has advanced and is rarely reported at the time of the initial diagnosis. This page features content originally published by The Chordoma Foundation and is reproduced with permission