Liquid biopsy and molecular signature: science challenges ovarian cancer

THE female tumors – breast and ovary – I am still among the most widespread and lethal. While the former is still the most frequently diagnosed (55,700 cases in 2022, +0.5% compared to 2020), the second still remains very insidious: the latest available estimates for 2020 refer to 5,200 new diagnoses and 3,200 deaths, a net survival of 43% 5 years after diagnosis and a life expectancy of a further 4 years, equal to 55%, conditioned by having passed the first year after the diagnosis (Source: The numbers of cancer in Italy 2022, AIOM-AIRTUM).

Today I am 49,800 women living in Italy after a diagnosis of ovarian cancer, still too few. Reversing this trend is the commitment and goal of medical research, which it pursues with two potentially effective weaponsup to hoping for winners: the possibility of anticipate the diagnosis of the disease and its recurrencesand the possibility of predict the individual efficacy of some innovative therapieslike the PARP enzyme inhibitors (Parp-inhibitors)effective in controlling the disease in some types of patients.

PARP inhibitors: what they do

The “challenge” that focuses on these weapons Humanitas Foundation for Research throw to ovarian cancerthe critical numbers of which are explained by the fact that in 80% of casesbecause of his asymptomaticovarian cancer comes diagnosed latealready advanced or metastatic. Beat it to timeintercepting it in a more initial phase, and recognizing its different types, thus making it more easily treatedare the objectives of some research projects that Professor Maurizio D’Incalcihead of the Humanitas Anticancer Pharmacology Laboratory and professor at Humanitas University and his team of researchers, are conducting thanks also to funding of the same Foundationfrom the Alessandra Bono Foundation and ofAIRC.

«In the therapeutic panorama, i PARP-inhibitors – explains D’Incalci – These drugs have already proven themselves particularly well effective in case of mutations in the BRCA1 and 2 genes. However, recent research, to which we have contributed to Humanitas, demonstrates that these drugs are potentially effective in other patients as wellsuch as those with cancers that have defects in the DNA repair mechanism called “homologous recombination repair”. In over half of the cases of this type, PARP inhibitors have in fact proven to be as effective as maintenance therapythat is, started after the classic chemotherapy with carboplatin and taxol».

The importance of the liquid biopsy

An important therapeutic goal, which however depends on the ability to identify patients with this form of disease and to monitor the evolution of the tumor during treatment. To do this, researchers are developing a minimally invasive system for the patient, handy for the clinician and low-cost for the system: the liquid biopsy.

“The goal of our project is to detect in blood plasma, rather than in tumor tissue, as normally happens, elements that help to understand whether a patient is responding positively to therapy or if instead it is necessary to turn towards another therapeutic option – continues D’Incalci – The study, in particular, will allow us to validate the diagnostic efficacy of liquid biopsy in combination with radiological examinations. According to our preliminary data, this protocol would also allow to identify, with a about 4-6 months in advancei compared to standard methods, the risk of recurrence of the disease. This would open a very precious and important therapeutic window in which to implement specific therapeutic strategies to counteract the recurrence of the disease. The liquid biopsy would then provide several advantages: a more accurate monitoring of the patients, the saving of useless and ineffective therapies, where these would only produce toxicity and not a real benefit”.

Alongside the liquid biopsy, which will be able to provide important information on the ability to respond to therapies and on the risk of recurrence, D’Incalci’s group is also working on projects for the early diagnosis of the disease. The goal is in this case recognize the presence of mutated cells before the tumor mass manifests itself clinically. “For now, the liquid biopsy is one possibility available to patients already diagnosed. The intent is to work to be able to develop a diagnostic capable of anticipating the tumor as well in patients who are familiar, but have not yet manifested the neoplasm: here we have already identified the “molecular signature” of ovarian cancer, which allows you to detect its genomic instabilityquite peculiar.

Ovarian cancer is in fact a particular neoplasm, which it develops from the fallopian tubes and not from the ovary itself: before the onset of actual symptoms, they may pass even 6-7 years old. But in this time frame, cancer cells could be already in the metastatic stage. That’s why we talk about “silent killer”.

Measuring this genomic instability has great potential because it would allow us to anticipate the diagnosisincreasing the chances of survival and also there healing of a significant number of patients. But only Research can turn this potential into reality, that’s why it is essential to continue to support it».

Throughout the month of April, supporting cancer research will be very simple. Just go to the stores Rinascente in Milan, Monza and Catania and shop in Beauty Bar: 10% of the proceeds of purchases made in these spaces will be donated this year to ongoing research to counteract the female tumors just described.

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