Urine test developed that can detect brain tumours for first time

pharmafile | July 29, 2021 | News story | |   

Scientists from Cancer Research UK have developed a simple urine test that can detect a common type of brain tumours for the first time.

The glioma test focuses on a specific form of DNA called cfDNA, which is produced by cancerous glial cells when they die. Glial cells surround axons in the brain and support the functioning of our nervous system.

Researchers have long known that circulating cfDNA is a tell-tale sign of a glioma, but have been unable to develop sensitive enough tests. Glioma-derived cfDNA is challenging to detect using liquid biopsy because quantities in body fluids are low.

The Cancer Research UK team built two methods to target the tumour-derived DNA and recruited eight patients who had been identified as possibly having a glioma by an MRI.

These people gave blood, urine and cerebrospinal fluid samples to the researchers and also had a biopsy done on their tumour.

Multiple tumour regions were sequenced to recover a high number of mutations for designing tumour-guided sequencing panels. Using tumour-guided sequencing and an INVAR analysis approach, mutations were detected in 7/8 CSF, 10/12 plasma, and 10/16 urine gliomas samples.

Using low coverage whole genome sequencing, cfDNA fragmentation patterns were analysed in urine samples from 35 glioma patients, 27 individuals with non-malignant brain disorders, and 26 healthy individuals. Fragment lengths differed significantly between these groups and machine learning models fragment length could differentiate urine samples from glioma patients.

Overall, the test detected 63% of cancers via urine tests and 83% from blood samples.

Dr Richard Mair, co-author of the study from Cancer Research UK Cambridge Institute, said: “We believe the tests we’ve developed could in the future be able to detect a returning glioma earlier and improve patient outcomes.”

The authors of the study, published in EMBO Molecular Medicine, say the findings are preliminary but hope they can be used to improve the detection of cancerous brain tumours.

Currently, MRI scans every three months are the only way to see if a high-risk patient is suffering with a new or returning glial tumour, and the long wait time between scans can induce anxiety and stress.

Dr Mair said: “Talking to my patients, I know the three-month scan becomes a focal point for worry. If we could offer a regular blood or urine test, not only will you be picking up recurrence earlier, you can also be doing something positive for the patient’s mental health.”

Researchers hope the test can eventually be used to screen people who are at high risk of a glioma, which affects around 4,000 people in the UK every year.

Kat Jenkins

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