A cheap and reliable diagnostic test for a rare form of cancer has been developed by researchers at the University of Oxford. The test involves screening tumour samples for a particular molecular fingerprint unique to this type of cancer.

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder which causes the development of benign but often painful tumours in the skin and, in females, in the uterus.

Between one in six and one in ten people affected by the disorder will go on to develop an aggressive form of kidney cancer called papillary renal cell cancer. The condition often strikes people in their twenties.

The disorder is caused by genetic mutations – which may be inherited – that alter the production of an enzyme called fumarate hydratase (FH). This leads to an accumulation of fumarate within cells that promotes the development of cancer cells.

An international team of scientists has now identified a particular protein modification which is induced by deficiency in the FH enzyme. The study, led by researchers in Oxford's Nuffield Department of Clinical Medicine, is published in The Journal of Pathology,

This alteration is unique to this type of tumour and can be used as a biomarker – a biological 'fingerprint' to identify tumours caused by this process.

The researchers have developed a test for this protein modification. It can be carried out in less than two hours and will identify tumours with FH mutations. The approach is much more cost effective than genetic testing of all possible cases using DNA sequencing.

They show that screening cases of papillary renal cell cancer using this new test allows them to identify undiagnosed cases of HLRCC for genetic testing.

They believe the test should be applied to all cases of papillary renal cell cancer to identify those with FH mutations, allowing advice to be provided to their families on their own relative risks of developing the disorder and associated kidney cancer.

'Cancer can be caused by many different risk factors, but if we can pinpoint rapidly and accurately the particular type of tumour, we can provide more accurate advice to patients and their families, and perhaps diagnose cases at earlier, more treatable, stages,' explains Dr Patrick Pollard, a Beit Memorial Fellow at the University of Oxford.

'For the first time, we are now able to screen for tumours caused by this rare, but often very serious, condition using a test which is simple, cheap and reliable.'

Dr Pollard and colleagues have filed a patent to develop the test, which is currently being marketed by Isis Innovation, the University of Oxford's technology transfer company.

Dr Lesley Walker, director of cancer information at Cancer Research UK, said: 'We know that diagnosing cancer at an earlier stage offers the best chances of successful treatment. So being able to identify other family members who are at risk so they can be monitored more closely is crucial to improving survival rates from this rare aggressive form of kidney cancer.

'Tests like this can also help us to identify other patients with the same mutation, paving the way for the development of targeted treatments for specific groups of patients. This approach is called stratified medicine and many scientists now believe it could revolutionalise cancer treatment in the future.'

The work was funded by the Wellcome Trust, the Oxford Biomedical Research Centre, the Department of Health, Cancer Research UK and the National Institutes of Health in the USA.

Source: Wellcome Trust