The Medical Technology Blog

Today’s article in the Medical Technology Blog is provided by Sophie Sanderson editor of Diagnostics Focus, please read on…

A team of researchers from the UK look to have come up with a ‘cheap and reliable’ diagnostic test for a rare form of cancer – hereditary leiomyomatosis and renal cell cancer (HLRCC) – which involves screening tumour samples for a particular molecular fingerprint unique to this 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 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. Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. HLRCC is said to follow an autosomal dominant inheritance pattern, in which a mutation happens in only one copy of the gene – meaning that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation.

Led by researchers at the Henry Wellcome Building for Molecular Physiology, University of Oxford, an international team of scientists claim to 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 be used as a biomarker – a biological ‘fingerprint’ to identify tumours caused by this mechanism.

For the first time, scientists are now in a position to screen for tumours caused by this rare, but often very serious condition using a test that is simple, cheap and reliable. The test for this protein modification offers great potential as it can be carried out in under two hours and will identify tumours with FH mutations. This approach is also said to be more cost-effective than genetic testing of all possible cases using DNA sequencing. When screening cases of papillary renal cell cancer using this new test, the researchers identified undiagnosed cases of HLRCC for genetic testing.

In the future, by applying this test in all cases of papillary renal cell cancer to identify people with FH mutations, families could receive advice on their own relative risks of developing the disorder and associated kidney cancer. Dr Lesley Walker, Director of cancer information at Cancer Research UK, reinforces the importance of this notion, stating that “…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 could also help identify other patients with the same mutation, paving the way for the development of targeted treatments for specific groups of patients that could revolutionalise cancer treatment in the future.



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