Urine test can detect cancers in Lynch Syndrome patients

Nov. 11, 2021

Researchers in the UK have shown for the first time it is possible to detect signs of urothelial cancer using a simple urine test in Lynch Syndrome patients who are at high risk of developing tumors.

The findings by Newcastle University experts, presented at the NCRI Festival, offer the potential to develop a cheap, easy and non-invasive way of screening Lynch Syndrome (LS) patients for cancers of the bladder, kidney and ureter.

LS is an inherited genetic disorder that carries a high risk of cancer. More than one in 300 people have the condition but most don’t know it – that’s more than 2,300 new cases every year in the UK.

Patients with LS are at high risk of bowel and endometrial cancers. The risk of urothelial cancer is less well recognized, with a lifetime risk of up to 28.5%, depending on which gene is involved.

This means that those LS patients who have an underlying defect in the MSH2 gene are more than 10 times as likely to get a potentially curable cancer in their urinary tract than the general population.

Failure to screen for these cancers means that even after being diagnosed with the condition, one in 20 LS patients will die of urothelial cancer, often at a young age, according to an NCL press release.

To see if the test could be used for urothelial cancers as well as bowel cancer, the researchers tested blood and urine samples in a LS patient who had been diagnosed with urothelial cancer in the upper urinary tract. They tested the urine before and after surgery to remove the tumor.

The researchers are setting up a regional pilot study in which they will collect urine samples from LS patients between the ages of 40 and 75 who have a confirmed diagnosis of LS based on DNA testing their blood, either after they present with cancer or because they have an affected relative. Initially, the researchers will target patients with LS that is caused by a mutation in the MSH2 gene, as this is the group of patients with the greatest risk of cancer.

Next year funding will be requested to roll out the urine screening test nationwide. To help establish the test’s sensitivity, international researchers will be invited to send in urine samples from LS patients before they are treated for urothelial cancers.

In a review of 10,243 urothelial cancers in England in 2018, the researchers found that only 43 patients (0.4%) had undergone testing for genetic variants that could identify whether or not they carried variants for LS.

Newcastle University press release