*What is an ATRT?
ATRTs can form anywhere in the Central Nervous System (CNS), but they most commonly develop in the brain and may spread to the spinal cord. In the brain, they can appear in several areas, including the cerebral hemispheres, ventricles, pineal gland, and cerebellum. Although rarer, they can also start in the spinal cord. Grant's tumor started in his cerebellum and he had a little spread into his spin by diagnosis.
These tumors grow from very early-stage cells and can cause a range of symptoms, depending on where the tumor is located and the patient’s age. Possible symptoms include:
Morning headaches
Vomiting
Changes in activity levels
Loss of balance
Increased head size (in infants)
For Grant he had a slight head tilt which gradually escalated to an eye squint and loss of balance. This all occurred within a month. He suffered no vomiting, loss of appetite, fever or changes in activity making it hard to determine what was happening. To confirm the diagnosis, doctors usually remove a small sample of the tumor during surgery, if possible. A neuropathologist will then examine this tissue under a microscope.
What is the Grade of ATRT?
CNS tumors, including ATRTs, are graded based on factors like tumor location, type, how much it has spread, genetic changes, the patient’s age, and how much tumor remains after surgery.
ATRTs are classified as grade 4 (grade IV), meaning they are malignant (cancerous) and grow rapidly. Cancer happens due to changes in the genes that control how our cells work. Mutations in these genes can cause cells to grow uncontrollably. Most ATRTs are linked to changes in the SMARCB1 gene (also known as INI1), and sometimes in the SMARCA4 gene. Normally, SMARCB1 helps stop tumor growth, but in ATRTs, it doesn’t work properly, allowing the tumor to grow unchecked. It's a sad irony that the genes created to prevent cancer growth are the ones that are the cause of the development of this type of tumor.
There are three main types of AT/RTs based on their genetic changes: AT/RT-TYR, AT/RT-SHH, and AT/RT-MYC. These types can appear in different parts of the CNS and affect different age groups. AT/RT-MYC is most common in adults.
What Is the Prognosis?
Prognosis refers to the expected course of the disease and the chances of recovery. This depends on several factors, such as tumor grade, location, type, how much it has spread, genetic findings, the patient's age, and how much tumor is left after surgery.
Many factors, like the tumor's grade, the patient’s age and overall health, and how they respond to treatment, can influence prognosis. For Grant, we were given a 20% survival rate.
What Are the Treatment Options for ATRT?
The first treatment for ATRT is usually surgery, if possible. The goal is to remove as much of the tumor as safely as possible and collect tissue for diagnosis. Grant had surgery with roughly 93-95% of the tumor being removed. That left over was wrapped around major blood vessels.
After surgery, patients typically undergo additional treatments, which may include radiation, chemotherapy, or participation in clinical trials. Clinical trials test new treatments like chemotherapy, targeted therapy, or immunotherapy. The treatment plan is personalized based on the patient’s age, health, tumor type, and how much of the tumor remains after surgery. Grant was too young to have radiotherapy. He went through 6 rounds of chemotherapy and then a stem cell transplant with High does chemotherapy. In total Grant was given 11 different chemotherapy drugs. These were mostly administered; three at a time due to the resilience of the tumor.
*All information from: Atypical Teratoid/Rhabdoid Tumors (AT/RT): Diagnosis and Treatment - NCI