They develop a new highly sensitive method that combines massive sequencing of the genetic material of patients and subsequent bioinformatic analysis, which would allow the detection of DNA changes that could predict the development of endometrial cancer.
The test has been applied to 93 women with Lynch syndrome, a genetic predisposition to cancer.
This study involves collaboration between oncologists, pathologists, geneticists, bioinformaticians, epidemiologists, and gynecologists from IDIBELL, ICO, IDIBGI, Bellvitge University Hospital, and Josep Trueta University Hospital, which has been essential in translating the laboratory results to the patients.
The young researchers Julia Canet, Fátima Marín, and Eduard Dorca are the first authors of this study.
Lynch syndrome is an inherited predisposition to cancer. Lynch syndrome is estimated to affect approximately 1 in every 300 individuals, who have inherited a DNA mutation that mainly predisposes them to gastrointestinal and/or endometrial cancer. It is estimated that between 13% and 49% of women with Lynch syndrome, depending on the affected gene, will develop endometrial cancer during their lifetime. Total hysterectomy (removal of the uterus) is recommended to women diagnosed with Lynch syndrome starting at the age of 40, in order to prevent the potential development of cancer. However, not all women will eventually develop cancer, and not all of them will do so after the age of 40.
This joint study, involving IDIBELL, ICO, IDIBGI, Bellvitge University Hospital and Josep Trueta University Hospital, presents a new method capable of detecting small changes in the DNA sequence, specifically in regions called microsatellites, which could potentially predict the risk of endometrial cancer in women affected by Lynch syndrome, an inherited predisposition to cancer. This technique, tested in a pilot study with 93 women and published in the journal Modern Pathology, combines massive sequencing of the genetic material with subsequent custom bioinformatic analysis and would be applied to endometrial aspirate samples.
The highly sensitive bioinformatic analysis, developed by the research group of Dr. Marta Pineda and Gabriel Capellá at IDIBELL and ICO, can detect small variations in the size of microsatellites in endometrial aspirate cells, even before the development of cancer. Hence, the final goal of the project is to implement a more individualized monitoring system for women with Lynch syndrome, which would prevent unnecessary histerectomies and their associated complications.
The team of researchers is already initiating a multicenter study at the national level to validate the clinical utility of the test in a larger number of patients. In this study, they also plan to perform microsatellite instability analysis on minimally invasive tests such as cytology or self-collected vaginal samples, thus avoiding the discomfort associated with endometrial aspirate collection.
The study has received support from the associations BufaLynch and Fundació Roses Contra el Càncer, which have helped move the research forward. The newly launched study will also receive assistance from the Cursa de la Dona de Castelló d’Empúries. The work has also received funding from the Ministry of Economy and Competitiveness, the Ministry of Science and Innovation, the Carlos III Health Institute, the European Regional Development Fund, CIBERESP, CIBERONC, the SEOM Foundation, and the Department of Business and Knowledge of the Government of Catalonia.
Watch the news coverage of this project at TN in 3/24 in below (in Catalan):
