Researchers from the Bellvitge Biomedical Research Institute (IDIBELL), the Catalan Institute of Oncology (ICO) and the University of Innsbruck in Austria have designed and tested a new non-invasive, self-sampling system that could advance the diagnosis of endometrial cancer by a year.

The new method consists of an epigenetic test that measures the methylation level of two specific genes in cervical cytology samples. Methylations are DNA modifications that enable gene activation and inactivation. Samples can be obtained through light swabs of the cervix in the medical office, or through a small tampon-like device that the patient can use at home.

Results published in the Journal of Clinical Oncology show that depending on the system used to obtain the sample, this new strategy detects between 90 and 100% of endometrial cancer cases.

According to Dr. Laura Costas, project leader and principal investigator of the infections and cancer group at IDIBELL and the Catalan Institute of Oncology, it would be feasible to use this method to diagnose endometrial cancer in risk populations.

Early diagnosis, the key to survive

Endometrial cancer is one of the most common among women, affecting more than 400,000 women a year worldwide. Currently, diagnostic methods are invasive and painful, mostly through endometrium biopsies. A delay in diagnosis requires the use of more aggressive treatments and significantly decreases patient survival.

This test has worked well in samples taken by the medical staff in consultation and vaginal self-samples taken by the patient at home -says Dr. Costas-. With this new system, the pressure on health care system is reduced since it is not necessary to refer to a specialist and thus contribute to a faster diagnosis.

New diagnostic method by risk groups

This has been a multidisciplinary study in which very diverse cohorts have been included to evaluate the potential of the new methodology.

The strategy can be very beneficial in two risk groups: postmenopausal women with gynecological bleeding, the main symptom of endometrial cancer; and, women with Lynch syndrome, an inherited genetic condition that predisposes to developing cancer. The researchers propose carrying out cost-effectiveness studies and analyzing larger cohorts before implementing this new diagnostic method.

On the other hand, the study has shown very encouraging results on the usefulness of this method in the general population, not at risk, since it can identify this cancer one year before its diagnosis. Now, researchers are developing trials to evaluate similar tests for other gynecologic cancers diagnosis.

The study also had the participation of the Department of Pathology and Gynecology of the Bellvitge University Hospital.

The Bellvitge Biomedical Research Institute (IDIBELL) is a biomedical research center created in 2004. It is participated by the Bellvitge University Hospital and the Viladecans Hospital of the Catalan Institute of Health, the Catalan Institute of Oncology, the University of Barcelona and the City Council of L’Hospitalet de Llobregat.

IDIBELL is a member of the Campus of International Excellence of the University of Barcelona HUBc and is part of the CERCA institution of the Generalitat de Catalunya. In 2009 it became one of the first five Spanish research centers accredited as a health research institute by the Carlos III Health Institute. In addition, it is part of the “HR Excellence in Research” program of the European Union and is a member of EATRIS and REGIC. Since 2018, IDIBELL has been an Accredited Center of the AECC Scientific Foundation (FCAECC).

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