Genetic tumour profiling through the Zero Childhood Cancer Program (ZERO) revealed an unexpected EWSR1::PLAGL1 fusion event in a four-year-old Melbourne girl whose brain tumour was initially diagnosed as an ependymoma, according to the Children’s Cancer Institute and Kids Cancer Centre at Sydney Children’s Hospital. The discovery allowed Emily Peterson’s family to delay risky radiation therapy while her brain was still developing, avoiding lifelong side effects before a secondary surgery removed the returning cancer.
How Genetic Tumour Profiling Rewrote a Child’s Cancer Treatment Plan
When two-year-old Emily Peterson began experiencing sudden shaking after naps, vomiting, and constant fatigue, her parents sought urgent medical care, according to nine.com.au. An MRI at the hospital revealed an avocado-sized brain tumour that had shifted her brain to one side, prompting a 12-hour emergency surgery. Sarah and Jay Peterson initially expected a routine diagnosis, such as a vitamin deficiency, before facing the neurosurgeon’s revelation. Surgeons completely removed the tumour during the operation and followed up with a second surgery two weeks later.
Initially, medical teams diagnosed Emily with an ependymoma, and her family prepared to travel to the United States for proton therapy. However, further testing through the Zero Childhood Cancer Program (ZERO) uncovered a rare genetic driver known as an EWSR1::PLAGL1 fusion event. According to cancer researcher Chelsea Mayoh from the Children’s Cancer Institute and ZERO, this specific diagnosis made Emily the first child in Australia identified with that tumour type and driver, fundamentally altering her clinical management path.
Did you know? The Zero Childhood Cancer Program (ZERO) is led by the Children’s Cancer Institute and Kids Cancer Centre at Sydney Children’s Hospital.
Weighing the Risks of Childhood Brain Radiation Versus Active Monitoring
Following the new genetic diagnosis, Emily’s family and her medical team faced a difficult choice between immediate radiation therapy and close clinical monitoring. Radiation carries a high risk of damaging healthy tissue surrounding a tumour in a young, developing brain. According to Chelsea Mayoh, reducing the impact of lifelong side effects is always a priority when treating pediatric patients.
Conversely, delaying radiation carried the terrifying possibility that the cancer could return and spread through Emily’s brain and spine. The updated genetic profiling indicated that if the tumour did recur, it would likely remain localized. Six months later, the cancer returned without spreading, allowing surgeons to remove it before the family traveled to Jacksonville, Florida, for proton therapy. Sarah Peterson noted that without the ZERO testing, the family would have pursued treatment months earlier based on an incorrect diagnosis at an age when radiation would have caused the most harm.
Financial and Personal Toll of Overseas Pediatric Cancer Care
Managing complex medical treatment overseas required immense sacrifices from the Peterson family. While the Australian government covered most treatment and travel costs, and local charities alongside Ronald McDonald House provided critical assistance, the family still had to exhaust their personal savings. Sarah Peterson was on unpaid maternity leave with their younger daughter, and Jay Peterson had to step away from work to relocate the family to Florida.
“It is not easy to just stop everything, pick up your lives and move to the other side of the world for complex medical treatment,” Sarah told nine.com.au. Despite these hardships, Emily successfully completed her care and celebrated one year of remission in July. She now undergoes regular MRIs and is monitored by specialists, but she takes no medication and has no physical limitations.
Frequently Asked Questions
What is an EWSR1::PLAGL1 fusion event?
It is a rare genetic mash-up discovered inside a tumour’s DNA that acts as a specific driver for certain rare brain tumours, identified through advanced genomic profiling programs like ZERO.
How does the Zero Childhood Cancer Program help patients?
Led by the Children’s Cancer Institute and Kids Cancer Centre at Sydney Children’s Hospital, ZERO sequences a child’s tumour DNA to identify exact genetic drivers, helping doctors tailor treatments and avoid unnecessary therapies.
What is proton therapy?
Proton therapy is an advanced form of radiation treatment that targets tumours with high precision while minimizing damage to surrounding healthy, developing tissue in pediatric patients.
Why is parental intuition emphasized in pediatric cancer cases?
Families often notice subtle behavioural or physical changes first. Sarah Peterson urges other parents to trust their instincts and seek second opinions if they feel something is wrong, even if initial checks show nothing.
Join the conversation: Have you or someone you know benefited from advanced genetic testing in healthcare? Share your thoughts or experiences in the comments below, and subscribe to our newsletter for more updates on medical research milestones like Australia’s upcoming Medical Research Giving Day on September 9.