Overview
RELA fusion-positive ependymoma is a type of brain tumor that grows in and around the fluid-filled spaces of the brain, called the ventricles. It belongs to a group of tumors called ependymomas, which arise from special cells that line these spaces. The 'RELA fusion' part means that inside the tumor cells, two genes have accidentally joined together — one of them is called RELA — creating an abnormal signal that drives tumor growth. This specific type most often occurs in the part of the brain above the brainstem, called the supratentorial region. It is also sometimes called 'ST-RELA ependymoma' or 'supratentorial ependymoma, RELA fusion-positive.' This tumor can press on brain tissue and block the normal flow of cerebrospinal fluid, the liquid that cushions the brain. This pressure causes many of the symptoms people experience. Common symptoms include headaches, nausea, vomiting, seizures, weakness on one side of the body, and changes in vision or behavior. In young children, the head may grow larger than expected. Treatment usually involves surgery to remove as much of the tumor as possible, followed by radiation therapy. Chemotherapy may also be used, especially in very young children or when the tumor comes back. Unfortunately, this type of ependymoma tends to be more aggressive than some other ependymoma types, and it has a higher chance of returning after treatment. Researchers are actively studying new targeted therapies aimed at the specific gene fusion that drives this tumor.
Also known as:
Key symptoms:
Frequent or severe headachesNausea and vomiting, especially in the morningSeizuresWeakness or numbness on one side of the bodyVision problems or double visionBalance and coordination difficultiesChanges in personality or behaviorDifficulty speaking or understanding wordsUnusual tiredness or low energyAbnormally large head size in infants and young childrenIncreased pressure inside the skull causing irritability in young children
Sporadic
Usually appears on its own, not inherited from a parent
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
1 eventROZLYTREK: FDA approved
ROZLYTREK is indicated for the treatment of adult and pediatric patients 12 years of age and older with solid tumors that have a neurotrophic tyrosine receptor kinase (NTRK) gene fusion without a known acquired resistance mutation, are metastatic or where surgical resection is likely to result in severe morbidity, and have either progressed following treatment or have no satisfactory alternative therapy
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableROZLYTREK
ROZLYTREK is indicated for the treatment of adult and pediatric patients 12 years of age and older with solid tumors that have a neurotrophic tyrosine receptor kinase (NTRK) gene fusion without a know…
ROZLYTREK is indicated for the treatment of adult and pediatric patients 12 years of age and older with solid tumors that have a neurotrophic tyrosine receptor kinase (NTRK) gene fusion without a known acquired resistance mutation, are metastatic or where surgical resection is likely to result in severe morbidity, and have either progressed following treatment or have no satisfactory alternative therapy
Clinical Trials
View all trials with filters →No actively recruiting trials found for RELA fusion-positive ependymoma at this time.
New trials open frequently. Follow this disease to get notified.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesRETEVMO
Loxo Oncology Inc., a wholly owned subsidiary of Eli Lilly and Company
RETEVMO Patient Support (Lilly Cares)
Travel Grants
No travel grants are currently matched to RELA fusion-positive ependymoma.
Community
No community posts yet. Be the first to share your experience with RELA fusion-positive ependymoma.
Start the conversation →Latest news about RELA fusion-positive ependymoma
No recent news articles for RELA fusion-positive ependymoma.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Was the RELA gene fusion confirmed by molecular testing, and what does this mean for my child's treatment plan?,How much of the tumor was removed during surgery, and does any tumor remain?,What type of radiation therapy is recommended, and what are the risks for my child's age and brain development?,Are there any clinical trials testing targeted therapies for RELA fusion-positive ependymoma that my child might qualify for?,How often will follow-up MRI scans be needed, and what are the warning signs of recurrence I should watch for at home?,What long-term side effects should we expect from treatment, and what specialists should we see to monitor for them?,What support services — such as neuropsychology testing, school support, or counseling — are available for our family?
Common questions about RELA fusion-positive ependymoma
What is RELA fusion-positive ependymoma?
RELA fusion-positive ependymoma is a type of brain tumor that grows in and around the fluid-filled spaces of the brain, called the ventricles. It belongs to a group of tumors called ependymomas, which arise from special cells that line these spaces. The 'RELA fusion' part means that inside the tumor cells, two genes have accidentally joined together — one of them is called RELA — creating an abnormal signal that drives tumor growth. This specific type most often occurs in the part of the brain above the brainstem, called the supratentorial region. It is also sometimes called 'ST-RELA ependymom
How is RELA fusion-positive ependymoma inherited?
RELA fusion-positive ependymoma follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does RELA fusion-positive ependymoma typically begin?
Typical onset of RELA fusion-positive ependymoma is childhood. Age of onset can vary across affected individuals.
Which specialists treat RELA fusion-positive ependymoma?
7 specialists and care centers treating RELA fusion-positive ependymoma are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for RELA fusion-positive ependymoma?
1 patient support program are currently tracked on UniteRare for RELA fusion-positive ependymoma. See the treatments and support programs sections for copay assistance, eligibility, and contact details.