Diagnostic test for a rare form of cancer developed by Oxford researchers

14th June 2011

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a disorder that 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 20s.

The disorder is caused by mutations, which may be inherited, in a gene responsible for the production of an enzyme known as fumarate hydratase (FH). This leads to an accumulation within cells of fumarate, which promotes the development of cancer cells.

Now, in a study published in the ‘Journal of Pathology’, an international team of scientists led by researchers at the Henry Wellcome Building for Molecular Physiology, University of Oxford, have identified a particular protein modification that is induced by FH deficiency (and hence an over-abundance of fumarate). This alteration is unique to this type of tumour and can hence be used as a biomarker – a biological ‘fingerprint’ to identify tumours caused by this mechanism.

The researchers have developed a test for this protein modification that can be carried out in under two hours and will identify tumours with FH mutations. This 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 this test should be applied in all cases of papillary renal cell cancer to identify people 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.”

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

More details can be found on the Wellcome Trust website.

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