05:08am Sunday 23 February 2020

Improved diagnostic test for the detection of cancer

This is important information, since MMR-deficient colon cancer requires a specific type of treatment which is different than the standard treatment. In some cases this information may also indicate whether the cancer is hereditary. Biocartis, the biotech company for molecular diagnostics that develops diagnostic platforms and associated tests, will use the results of the KU Leuven researchers to develop a new assay. A test like this will mainly be utilized to detect MMR-deficient colon cancer but can also be used to detect other types of MMR-deficient cancers, such as ovarian, uterine and stomach cancers and even leukaemia.

Diether Lambrechts (VIB/KU Leuven): “As a result of this collaboration with Biocartis, our insights will be further deepened and will result in diagnostic tests, becoming available to oncologists. This way, our results have the potential to be very significant for the patients themselves. Of course, this is the ultimate dream of every cancer researcher.”

Geert Maertens (CSO Biocartis): “We are very pleased with this collaboration. It illustrates perfectly how new biomarkers from top scientific centres, such as Dr. Lambrecht’s laboratory, can be valorised to make more efficient diagnoses possible. It is an important model for similar types of projects in Flanders and throughout the world, projects in which Biocartis aims to make available diagnostic tests based on new, valuable markers. This will enable us to develop a unique diagnostic cancer test which can be quickly and accurately analysed on the Biocartis IdyllaTM platform so that doctors and patients can benefit from these developments.”

A different approach to MMR-deficient tumors
Cancer cells arise due to an accumulation of alterations in the DNA (mutations) of healthy cells. In order to keep the number of mutations to a minimum, cells use a ‘mismatch repair’ mechanism (MMR) to undo new mutations. In some cells, these MMR mechanisms have been deactivated, which results in an increase in cancer risk. These cancers are called MMR-deficient cancers. MMR-deficient colon tumor cells behave differently than most other colon tumors. They are resistant to the traditional forms of chemotherapy, and MMR deficiency is also a good indicator of the heritability of the cancer. Non-hereditary forms of colon cancer are also sometimes MMR-deficient, but hereditary colon cancers are almost always MMR-deficient. Of course, it is important to identify hereditary forms of colon cancer, since polyps can be preventively detected and removed by means of intensive monitoring of the family members, when necessary, in order to keep the risk of colon cancer to a minimum.

New insights help to identify MMR deficiency more accurately
The occurrence of Microsatellite instability (MSI) is typical of MMR-deficient tumors. MSI can be detected via special recognition points in the DNA (markers).  Diether Lambrechts’s research group has identified a completely new set of MSI markers which indicate whether or not a cancer cell is MMR-deficient. For this research, they screened the complete genome of MMR-deficient colon cancer and uterine cancer.

Diether Lambrechts (VIB/KU Leuven): “The test currently being used for the detection of MMR deficiency was made many years ago using what is now outdated technology, when our knowledge of human DNA was much more limited than it is now. Today, we see that this test contains several irrelevant markers, and we can also determine which of the markers actually are effective. Our current knowledge should therefore allow the development of a much more sensitive test.”

Developing a diagnostic test
These MSI markers form the ideal basis for the development of a test that indicates whether or not patients have MMR-deficient cancer. The biotechnology company, Biocartis, is specialised in the development of a wide range of tests for various diagnostic domains, with oncology as their main focus. Their innovative and high-quality diagnostic platform, IdyllaTM, makes simple and accurate analysis possible. Biocartis will use the new set of MSI markers to develop a new diagnostic cancer test. This is an important step in the optimization of the treatment of colon cancer and possibly of other types of cancer in which MMR deficiency plays a role, for example, in uterine cancer and stomach cancer. Technically speaking, this test will be easier to perform and, more importantly, will also be more efficient than existing tests. It should enable us to pick up patients who are now slipping through the net.


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