fbpx

GBM Awareness Day is July 17. Join us in raising awareness all month long! Learn more.

Atypical Teratoid Rhabdoid Tumor (ATRT)

Play Video about video overlay

Atypical Teratoid Rhabdoid Tumor (ATRT)

Atypical Teratoid Rhabdoid Tumor, also referred to as ATRT, is a rare, high-grade tumor that occur most often in children age 3 and younger. They can appear as a large, bulky mass, tend to be fast-growing, and may spread through the central nervous system.

Location

ATRTs can occur anywhere in the brain or spinal cord.

Symptoms

Symptoms depend on the age of the patient as well as the size and location of the tumor. These may include nausea and vomiting, unusual sleepiness or change in activity level, loss of balance, lack of coordination, trouble walking, headache, seizures, and increased head size or bulging fontanelle (in infants).

Treatment

Treatment generally involves surgery to remove the tumor followed by intensive chemotherapy. Radiation is often utilized depending on the age of the patient and if the tumor has spread.

Prognosis

Prognosis means a prediction of outcome. This information is usually based on information gathered from groups of people with the same disease. It is important to remember these statistics are not individualized.

Survival in ATRT is dependent on age at diagnosis, extent of surgery, therapy utilized, presence of rhabdoid tumor predisposition syndrome, and if the tumor has spread. The poorest survival is in young infants and patients with metastatic disease; in contrast, the highest survival is in children ≥3 years old at diagnosis without metastatic disease treated with aggressive surgical resection, chemotherapy, and radiation therapy.

The 5-year relative survival rates for ATRT by age group are as follows:

  • Children (ages 0-14): 47.8%
  • Adolescents and Young Adults (ages 15-39): 41.5%
  • Adults (ages 40+): 24.6%

Incidence

ATRTs are a very rare tumor, accounting for less than 100 cases per year. However, they comprise up to 50% of central nervous system tumors diagnosed in children in their first year of life.

Age Distribution

ATRT occur most commonly in children 3 years or younger at diagnosis with the majority of patients diagnosed in their 2nd year of life.

Risk Factors

Up to a third of patients with ATRT have a germline mutation (a change in the genes in all cells of their body, not just in the tumor) in either the SMARCB1 gene (more common) or the SMARCA4 gene.  The presence of either of these germline mutations is diagnostic of rhabdoid tumor predisposition syndrome and puts patients at much higher risk for development of a rhabdoid tumor in either the brain (called ATRT) or elsewhere in the body (called malignant rhabdoid tumor).

Molecular Profile

Molecular profiling is the detection of specific genes, proteins, or other molecules in a tumor. This information helps confirm tumor diagnosis, inform treatment options, and predict prognosis.

More than 95% of ATRTs are characterized by an inactivating mutation or deletion in the gene SMARCB1 (also known as INI1), while the remainder have a similar change in the gene SMARCA4. These tumors rarely have any additional shared mutations or genetic changes.

Three molecular subgroups of ATRT have been identified: ATRT-MYC, ATRT-SHH, and ATRT-TYR. These subgroups differ in age of onset, location, and incidence of metastases; current and planned studies are assessing if there are differences in response to therapy and survival between these molecular subgroups.

Content last reviewed:

April 2022 by Holly B. Lindsay, MD, MS and Donald Williams (Will) Parsons, MD, PhD

Newly diagnosed?
Start here.

This free “Newly Diagnosed Toolkit” has what you need to get started, including diagnosis, treatment,  tumor-specific information for some tumor types, even a custom notebook and pen to keep track of information from your doctor visits.

Subscribe to MindMatters

Sign up for our bi-monthly email to get the latest news on treatments, support, and stories from the brain tumor community.

Our Support Services are 100% free for patients and caregivers

CareLine

800-886-ABTA (2282) 8:30 AM-5:00 PM CST or info@abta.org
- Information on treatment and care
- Finding brain tumor treatment centers
- Financial assistance resources
- Finding clinical trials

Support Groups

From diagnosis, surgery, and treatment side effects, to recovery and for some—recurrence—you may feel anxious and isolated. Support groups can improve your emotional well-being and quality of life. Virtual and in-person options.

Patient & Caregiver Mentor Support

Our Mentor Program offers patients and caregivers the opportunity to connect with someone who has gone through a similar brain tumor diagnosis, treatment, and care.

Financial Support

Being diagnosed with a brain tumor takes a toll physically, emotionally, and financially. Medical bills and related costs can quickly add up. We have a list of resources to help in addition to the ABTA Financial Assistance Program.

Webinars

The free educational webinar series is an excellent resource for brain tumor patients and caregivers to learn more about brain tumor types, treatments, well-being topics, and research updates from nationally recognized experts.

Educational Resources

- About Brain Tumors
- Questions to Ask Your Doctor
- Tumor-specific educational materials
- Caregiver Handbook
- Clinical Trials
and more

Connections Community

ABTA’s online support community, where brain tumor patients, survivors, and caregivers come together. Information about malignant and non-malignant tumors, GBM, immunotherapy and more.

Patient Family Meetings

Each free, half-day program in this series focuses on a specific topic for brain tumor patients and caregivers, led by nationally recognized experts. Watch one or all. Similar to our Webinars but longer and more in-depth.

Brain Tumor Treatment Center

The ABTA Treatment Center Guide provides detailed information about a variety of treatment centers, including the number of patients treated annually, technologies and specialized procedures offered.

Gina & Tim Abbas
Caregiver & Anaplastic Astrocytoma Survivor

Give Now

Accelerate Groundbreaking Research & Expand Patient Services

800+ children & adults are diagnosed with a brain tumor every single day.