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Liquid biopsies emerge as a promising approach for detecting paediatric brain malignancies

Liquid biopsies?

Despite excellent progress being made into diagnosing and treating brain cancers, they are still the leading cause of childhood death. To improve outcomes, early detection and monitoring are essential, with liquid biopsies recently emerging as a promising approach to detect brain tumours through the screening of circulating tumour DNA.

A recent study tested the limits of liquid biopsies when used to detect and monitor primary and metastatic childhood brain cancers, with the research demonstrating the feasibility of using personalised liquid biopsies during the surveillance of tumours.

Why funding research is so important

Here at Joss Searchlight, we understand the importance of fundraising to support this vital research, and not only will investing in this research help save the lives of children with cancer, but it will also improve the current infrastructure for cancer healthcare systems, and help to save the NHS millions on cancer care for the children who do suffer a relapse. 

To find out more about how to support our charity with our fundraising efforts or to make a donation, please click here.

The importance of the study

Tumour resections and MRI scans are currently the primary methods for treating, diagnosing, and monitoring tumours post-surgery, however the loss of tissue samples is a challenge when classifying the tumours. In addition, malignant cells often evolve, and single biopsies does not represent the tumour fully, especially over a period of time.

In previous studies, the majority of paediatric liquid biopsy samples did not contain sufficient somatic mutations, which lead to low detection rates. In addition, previous studies showed high degrees of fluctuations, and so far, research has not met clinical requirements. Although current tumour screenings are highly specific, the lack of sensitivity reduces confidence and there is a need to improve diagnostic and monitoring methods.

The aim of this study was to characterise the DNA profiles of 12 patients with medulloblastomas, ependymomas, central nervous system neuroblastomas, and embryonal tumours with multi-layered rosettes, in cases where the genome type was relatively stable. By improving on the shortcomings of previous liquid biopsy techniques through a highly personalised approach, the researchers were able to identify somatic mutations within tumour tissue to validate the use of liquid biomarkers.

What did the study find?

12 patient samples were obtained from children with primary brain malignancies, with freshly resected brain tumour tissue collected as part of standard clinical procedures. The cohort of patients included 7 medulloblastomas, 3 ependymomas, 1 ETMR and 1 CNS neuroblastoma patient, who had all received chemotherapy and radiotherapy.

The study involved the collection of 79 liquid biopsies, with the majority of samples taken 1 week after surgery. The researchers extracted the ctDNA and measured its integrity using Bioanalyser microchips, with the electropherograms showing distinct peaks. In 74 out of the 79 samples, there were no genomic DNA fragments found. The team also used molecular profiling to search for mutations within the common driver genes, with the findings revealing that most genes were not mutated.

The findings of this patient-specific approach shows that a highly personalised liquid biopsy method can be used to provide sensitive and efficient detection and surveillance of various brain cancer tumours in children. During the various experiments over the course of the study, the biopsies were able to text as little as 0.17 ng in 1 ml of CSF, representing a higher degree of accuracy than previous studies.


Childhood brain tumours are relatively rare.

Childhood brain tumours are thankfully relatively rare.

1500 children are diagnosed with cancer each year in the UK, of these, around 400 children are diagnosed with a brain tumour.

Most of the time symptoms that your child may show that cause you concern will not be due to a brain tumour.

However, it is important to talk to your doctor if you are concerned.

What are the Symptoms of a Childhood brain tumour ?

Symptoms of brain tumours can vary from child to child.

Symptoms can often mimic relatively minor childhood illnesses.

Common symptoms of brain tumours

Taking Your Child to a G.P if you suspect a brain tumour

If your child has one or more of the symptoms listed, or you are concerned, you should take them to see a Doctor as soon as possible.

Explain your worries about the symptoms being a sign of a possible brain tumour.

If your child is exhibiting two or more of the symptoms listed, ask the Doctor for an urgent referral, meaning  your child will be given an appointment with a specialist who can look into the cause of the symptoms.

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