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Cancer Research UK Cambridge Institute developing liquid biopsies for detecting brain tumours

Liquid biopsies could detect changes in DNA caused by a brain tumour
Liquid biopsies could detect changes in DNA caused by a brain tumour

Method could improve detection rates and enable more personalised treatments

Brain tumour research is a priority for Cancert Research UK
Brain tumour research is a priority for Cancert Research UK

Cambridge scientists are developing a method of detecting brain tumours using liquid biopsies.

The technique could provide a less invasive way to monitor disease compared to tumour biopsies, and could help improve detection rates and enable more tailored treatments.

The researchers at the Cancer Research UK Cambridge Institute took cerebrospinal fluid (CSF) – which bathes the brain and spinal cord – from 13 patients with glioma at Addenbrooke’s Hospital via lumbar puncture.

Using an inexpensive and widely available technique called shallow whole-genome sequencing to detect brain tumour DNA, they looked for large genetic changes such as the loss of duplication of genes.

They were able to detect the tumour DNA in the fluid of five (39 per cent) of the patients – a world first – by looking at the size of the tumour DNA fragments, which are shorter than those in healthy cells.

Multiple tissue samples from one patient’s brain tumour were compared to their CSF. While the genetic changes broadly matched, the fluid contained changes missing in some of the tissue samples, suggesting that CSF samples could reflect the repertoire of genetic alterations found in brain tumours.

The institute’s Dr Florent Mouliere, co-first author, said: “Liquid biopsies are showing great promise for a number of cancer types, but tests for brain tumours have lagged behind due to the low levels of tumour DNA found in body fluids, in particular the blood.

“Our work shows that a cheap, easily available technique can be used to analyse tumour DNA in cerebrospinal fluid. In the future, we envisage that this technique could be used to identify patients who may benefit from further tests that could help monitor their disease, opening up more tailored treatment approaches.”

Cancer Research UK has made brain tumour research one of its priorities and is spending around £25million over five years.

About 11,400 people are diagnosed with brain tumours in the UK every year but only 14 per cent of people will survive their disease for a decade or more.

Professor Charles Swanton, Cancer Research UK’s chief clinician, said: “Survival for brain tumours remains low and there is an urgent need for research like this to identify strategies to better manage these complex diseases. This study lays important groundwork that brings the possibility of liquid biopsies for this hard to treat disease one step closer.

“The researchers will now need to expand this work into larger numbers of patients and find out whether this approach could have applications in the clinic, such as indicating whether a patient’s treatment is working.”

The results were published in EMBO Molecular Medicine.

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