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Date: 28/4/2020


It is with great pleasure that the EUROFINS GENOMA research department informs you that the first results of a research on the early diagnosis of tumors conducted in collaboration with the Regina Elena Cancer Institute have been published.

Scientific Director of the Regina Elena Cancer Institute Dr. Gennaro Ciliberto, announced it in a  press release.

"The results of the Regina Elena Institute study in collaboration with the Eurofins Genoma Group Laboratories - says Gennaro Ciliberto - highlight how liquid biopsy can provide complementary answers to those of other biological tests and improve current diagnostic schemes".

The study published in the international Journal of Experimental & Clinical Cancer Research has shown that the liquid biopsy of colon cancer patients can represent a new frontier for the early diagnosis of solid tumors and for cancer prevention.

"In fact," as pointed out by dr. Giacomini, researcher at Regina Elena and referent of international programs on the topic - “The early diagnosis of colorectal cancer is a need very much felt by both patients and health authorities. Many patient rights associations (eg Digestive Cancers Europe) have long been pressing for new and more accurate diagnostic tests to be adopted in clinical practice. One of these tests is the Liquid Biopsy based on the detection of circulating free cell DNA (cfDNA) released into the blood by cancer cells ".

"The search for genomic alterations in the cfDNA of colon tumors is very promising - states Dr. Giacomini - because the analysis consists of a simple blood sample that could easily be integrated into wide-ranging genomic check-ups that reveal at the same time many types of cancer. Furthermore, genomic alterations are a much more selective marker for cancer than generic alterations of DNA or other biomarkers. "

"The goal of the study was to analyze specific regions of the genome, applying both Next Generation Sequencing (NGS) methods and an ultra-sensitive method not yet used in routine diagnostics (the 'digital PCR'). Thanks to the combination of these methods - explains Dr Spinella, Scientific Director of Eurofins Genoma - it was possible to reveal tiny amounts of altered tumor cfDNA in the blood (even 500 times lower than that found in patients with advanced tumors) since day of the surgical operation for the removal of the primary tumor ".

The results of the study show that these assays reveal the presence of relatively small tumors (up to a minimum of 3 cm in diameter) in almost 2/3 of patients. The number of patients analyzed is still insufficient, but the results are promising, and above all, they show that the technologies are mature to achieve even ambitious results.

In addition, the clinical usefulness of the liquid biopsy was also highlighted in the post-surgical follow-up. In fact, it would seem possible to highlight patients whom the surgeon declares cured, but who still have some small elusive outbreak (not visible with CT and PET) and cryptic (unknown location) of disease somewhere.

To the full advantage of the diagnostic capabilities of the test, despite all due caution, the liquid biopsy is nevertheless an important weapon, because from the early stages of the tumor it can give us very useful indications as to its vulnerabilities.

"The panorama of early diagnosis of colorectal tumors is destined to change rapidly in the coming years - concludes Dr. Spinella - thanks also to the liquid biopsy, and hopefully more and more tumors will reach the operating table in initial conditions, allowing radical and definitive treatments.

In this area of research, Eurofins Genoma Group will continue to support the Regina Elena Institute to further deepen its scientific knowledge on liquid biopsy and on the molecular diagnosis of tumors.

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