The study, published in eBioMedicine, was conducted by a team of researchers led by Newcastle University and the University of Birmingham, with Birmingham Children’s Hospital as the lead clinical centre, and funded by Children with Cancer UK and Cancer Research UK. 

‘Revolutionise’ treatment

Taking cell samples from 86 tumours, a laboratory test was used to accurately identify metabolic markers including chemicals specific to the different tumour groups. 

The study also validated previous research that found that glutamate, a metabolite present across all of the tumour cells, is linked closely with tumour prognosis.

Significantly, the research could pave the way for using MRI scanning combined with machine learning to assess medulloblastomas for their ‘signature’ metabolic profiles without the need for invasive biopsy and could rapidly reduce the current 3-4 week wait from presentation to full diagnosis.

Professor Steve Clifford, Director of the Newcastle University Centre for Cancer, who jointly led the study, said: “Providing a rapid diagnosis using innovative scanning and Artificial Intelligence techniques has the potential to revolutionise 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 tumours, and the potential to exploit these therapeutically.”

The latest findings could be game changing for children like Jack Bourne, aged six, 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 tumour he had. We were so scared.”

Within weeks of starting school, Jack had started experiencing sickness and headaches which doctors put down to possible separation anxiety or vertigo.

But when parents Tom and Suzanna noticed that he was struggling to walk, they sought a second opinion and Jack was referred to hospital the 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 pulled through the 10-hour operation to remove the tumour, but it would take more than four weeks for doctors to figure out what specific type of medulloblastoma he had in order to effectively treat it.

“The research that’s going into diagnosing tumours is really important,” said Tom.

“In Jack’s case there was quite a delay while they sent his tumour to Great Ormond Street to be analysed. 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.”

Improving outcomes

Medulloblastoma is the second most common brain tumour in children. It’s the most common malignant children’s brain tumour.

Around 52 children are diagnosed with the cancer each year in the UK. Adults can also get this type of tumour, but it is rare.

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, added:  "Developing quicker, less invasive ways to accurately diagnose the different types of medulloblastoma, the most common malignant brain tumour 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."

Reference: Matabolite profiles of medulloblastoma for rapid and non-invasive detection of molecular disease groups. Steve Clifford et al. eBioMedicine. Doi: 10.1016/j.ebiom.2023.104958