Children with the most common malignant form of brain cancer may see shorter diagnostic wait times thanks to new research that tested a new, faster, and less invasive method of determining the type of tumor they have.
The study, published in eBioMedicine, was carried out by a group of researchers led by the University of Birmingham and Newcastle University, with Birmingham Children’s Hospital serving as the primary clinical site.
The combined team discovered that the four different types of medulloblastoma, a malignant children’s brain tumor, have distinct profiles based on their distinctive metabolism. A laboratory test was performed on cell samples from 86 tumors to accurately identify metabolic markers, including compounds peculiar to the various tumor groupings.
The study also confirmed prior findings that glutamate, a chemical found in all tumor cells, is closely associated to tumor prognosis.
Significantly, the study could open the path for using MRI scanning in conjunction with machine learning to analyze medulloblastomas for their’signature’ metabolic profiles without the requirement for invasive biopsy, thereby drastically reducing the current 3-4 week wait from presentation to complete diagnosis.
Andrew Peet, Emeritus Professor of Clinical Pediatric Oncology at the University of Birmingham and an Honorary Consultant at Birmingham Women’s and Children’s NHS Foundation Trust, who is lead author of the study said, “Time is so important in cancer diagnosis so our findings on different types of medulloblastoma having a detectable signature metabolism could be game changing for quickly diagnosing, and then offering the best possible treatment for children.”
Professor Steve Clifford, Chair of Molecular Pediatric Oncology at the Newcastle University Center for Cancer, who jointly led the study said, “Providing a rapid diagnosis using innovative scanning and AI (artificial intelligence) techniques, has the potential to revolutionize patient management, allowing early non-invasive diagnosis, tailoring of treatment decisions and reducing the period of uncertainty for patients and parents while awaiting a full diagnosis.
“Further, our biological findings provide critical new insights into the metabolism underpinning these tumors, and the potential to exploit these therapeutically.”
The latest findings could be game changers for children like Jack Bourne, a six-year-old from Birmingham who was diagnosed with medulloblastoma in March 2023.
Jack’s dad Tom said, “We’ve been through 13 months of treatment but six weeks of that was just waiting to find out what type of tumor he had. We were so scared.”
Within weeks after starting school, Jack began having illness and headaches, which physicians attributed to suspected separation anxiety or vertigo. When Jack’s parents, Tom and Suzanna, observed that he was having difficulty walking, they sought a second opinion, and he was referred to Birmingham Children’s Hospital that same day.
“When they told me the results of the MRI scan, I didn’t know what to feel,” said Tom. “As we were trying to digest everything, they were asking us to sign consent forms because they wanted to operate first thing the next morning. You’re reading these forms and all you see is—he might not make it out alive. It’s heartbreaking, it really is.”
Jack survived the 10-hour tumor removal operation, but it would take physicians more than four weeks to determine what type of medulloblastoma he had and how to treat it properly.
“The research that’s going into diagnosing tumors is really important,” said Tom. “In Jack’s case there was quite a delay while they sent his tumor to Great Ormond Street to be analyzed. During that time Jack was given some chemo just to start things off because they just wanted to do something rather than just wait. But all you want is for your child to be given the best possible treatment right from the start.”
Pediatric Brain Tumor – Improving outcomes for every child
Christiana Ogunbote, head of research at Children with Cancer UK said, “We are incredibly proud to help fund this innovative medulloblastoma research and are excited to see how it could change the experiences of children diagnosed with this disease and their families.
“Discovering new ways to improve outcomes for children with cancer is at the heart of what we are trying to achieve. Through continued and sustained investments in research we look forward to a day where every child can survive their cancer diagnosis.”
Dr. Laura Danielson, children’s and young people’s research lead at Cancer Research UK, said, “Developing quicker, less invasive ways to accurately diagnose the different types of medulloblastoma, the most common malignant brain tumor in children, is a crucial step in improving outcomes for young patients.
“This important study has identified a new way to distinguish between the four subgroups of medulloblastoma. This discovery paves the way for the development of simple imaging tests that could quickly and accurately diagnose the different types of medulloblastoma.
“This kind of discovery research is important to drive new and improved ways to better detect and treat cancers affecting children and young people.”
For more information: Sarah Kohe et al, Metabolite profiles of medulloblastoma for rapid and non-invasive detection of molecular disease groups, eBioMedicine (2024). DOI: 10.1016/j.ebiom.2023.104958
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