METHOD FOR THE DIAGNOSIS AND PROGNOSIS OF TUMORS: the Liquid Biopsy

Liquid biopsy (LB) is a technique that uses circulating biomarkers from cancer patients to provide insight into the genetic landscape of cancer. LB is emerging as an alternative and complementary diagnostic and prognostic tool to surgical biopsy and should provide the tool for the implementation of precision oncology in clinical settings. Indeed, it may help improve understanding of tumor heterogeneity and enable dynamic monitoring of treatment responses and genomic variations. Therefore, LB is a promising method for cancer management.

Decisions about cancer therapy are often made based on the histopathological-molecular profile of the tumor tissue (histological examination) obtained from surgery or biopsy. Tumor profiles have been shown to change with time and treatment, and tumor tissue is heterogeneous. Therefore, other approaches that are easily accessible and less invasive than surgery or biopsy are needed to monitor responses to treatment and predict relapse. In recent years, the term “liquid biopsy” (LB) has been introduced to represent circulating multifunctional biomarkers in the peripheral blood of cancer patients. With a simple blood sample, even repeatable over time, we may be able to know:

1. response to different treatment regimens and provide an estimate of the risk of progression;
2. if a patient has minimal residual disease after completing primary care;
3. acquisition of mutations that confer sensitivity/resistance to therapies;
4. Finally, liquid biopsy may be an alternative to tissue biopsy in patients in whom tissue biopsy is contraindicated.

The innovative path of Oncology today is represented by the implementation of the genetic profile of the tumor both at the level of the neoplastic tissue but, above all, in the circulatory stream where the Circulating Tumor Cells detached from the primary tumor can be captured, the cfcDNA (cell-free DNA ) and ctcDNA (DNA of Circulating Tumor Cells) often with different characteristics from tumor tissue.

The first cause of death in cancer patients is metastatic spread of the tumor from the primary site. The presence of minimal residual disease in cancer patients, already treated surgically or pharmacologically, is the cause of the onset of recurrences, which represent about 30% of cancer patients. Our application allows us to precisely define the amount and molecular characteristics of minimal residual disease after primary treatment. Cancer is one of the top three leading causes of death in the world. Even after successful therapy and remission is achieved, the risk of relapse often remains.

A simple blood sample will therefore allow to analyze the products that the tumor pours into the blood (as happens in pregnancy for the fetus). LIQUID BIOPSY therefore with the possible acquisition of new concepts: Minimal Residual Disease – Diagnostic Anticipation – Sensitivity / Resistance to drugs. In this way there will be, at the disposal of the population, this new diagnostic weapon which will allow, after a primary treatment (surgery and/or chemotherapy) to understand if a Minimal Residual Disease remains in the organism: “Extremely small quantities of tumor DNA before cancer recurrence can be observed by traditional imaging tools such as CT, MRI or PET (Diagnostic Anticipation), with the International Literature indicating an average time of 10 months. If left untreated, minimal residual disease can lead to cancer recurrence. Furthermore, depending on the mutations identified by tumor DNA sequencing, it is possible to know drug resistance (hormonal therapy in the case of FGFR3 gene amplification) or increased tumor sensitivity to new drugs (Alpelisib if the PIC3CA gene is amplified).