This is a momentous period in oncology. The emerging “mutational model” allows us to treat patients with drugs that home in on the alterations of specific genes in the tumour cells. Previously, oncological treatment was based on the histological model, but new therapies – mainly drugs with molecular targets – are increasingly more efficient. Innovative tools and methods (genome sequencing, bio-informatic approaches, artificial intelligence, bio-databases, etc.) allow us to study thousands of gene alterations present in tumours or in individual patients, conduct genomic profiling is conducted on liquid or solid biopsy samples, and assess the efficacy of drugs even outside of standard therapeutic indications. In fact, the United State FDA has recently authorised the use of three new drugs (Pembrolizumab, Larotrectinib e Entrectinib) for the treatment of tumours in patients affected by neoplasia characterised by specific mutations, independently from age, sex or tumour area.

Molecular Tumour Boards (MTBs), interdisciplinary groups that integrate competences in oncology haematology, molecular biology, anatomical pathology and hospital pharmacy, were created one year ago at the “Regina Elena” National Tumour Institute (IRE) - IFO and the Sapienza Oncological Centre (POS) to provide doctors and patients with the tools to manage complex situations through fair, homogeneous, managed and sustainable oncological therapies.

“In this context,” Sapienza Rector Eugenio Gaudio and IFO Director GeneralFrancesco Ripa di Meana announce “a strategic agreement between IFO and Sapienza University to provide a greater number of patients with genomic profiling thanks to advanced technology and new custom-tailored therapies for specific mutations. Thanks to the experience of the MTB IRE-IFO, the wide basin of patients at the Sapienza Oncological Centre (POS) and the new data platform provided to Sapienza University, the Regione Lazio sees the emergence of an exemplary model.”

Since 2017, the Regina Elena Institute routinely performs NGS (Next Generation Sequencing) molecular profiling on 1000 patients/year to identify the gene mutation-focused therapies. Witt the creation of the Molecular Tumour Board (MTB), IRE-IFO has obtained interesting results. Over the last 12 months, it has addressed the extremely complex clinical cases of patients being treated at IFO or who were transferred from other health institutions and has provided innovative and additional therapies to patients who were still in good general conditions, notwithstanding an advanced neoplasia. 

Non-conventional, off-label therapies were administered to 11 out of over 40 analysed clinical cases. The clinical response in the majority of patients was fantastic and, in some cases, full remission was observed. Patients, who had no other therapeutic options and were probably doomed to a rapid and fata evolution of the illness, were treated for advanced state pulmonary carcinoma and we observed what in literature is referred to as a “Lazarus resurrection.” The success of MTB IRE-IFO indicates that we are pursuing the correct direction and must expand it.

Since December 2018, the Sapienza Oncological Centre (Umberto I General Hospital and Sant’Andrea Hospital) was able to use the Foundation One and Nanostring Platforms to evaluate the genomic expression of 89 patients with clinical characteristics similar to those used in the IFO-IRCCS study. The mutational reports of the 75 evaluated samples were decisive to identify the molecular targets and select ad hoc therapy in over 40% of cases (67 patients affected by pulmonary neoplasia in metastatic phase, 1 with metastatic melanoma, 1 with metastatic squamous cell carcinoma of the anus and 6 with colon tumours).

Moreover, the collaboration between Sapienza University of Rome, the “Ricerca e Salute” Foundation (ReS) and Cineca will ensure the development, configuration and management of a IT mutational platform that will allow the collegial discussion of particularly complex clinical cases on the basis of genomic profiling, providing an essential digital support tool and database for discussions amongst experts. The platform will expedite epidemiological analysis, classification of mutations and oncological research activity. The use of this information will provide research and regulatory authorities with extraordinarily important information archived in a homogeneous manner reflecting not only clinical studies by real life, too.

“Our commitment,” emphasizes Gennaro Ciliberto, Scientifico Director, IRE and Paolo Marchetti, POS Coordinator, “is steadfastly aimed at consolidating our common experience, which has already provided important results, extending and sharing its benefits with all patients in Lazio for new oncology therapies.”

Rector Gaudio and Director General Ripa di Mean concluded that “only by scaling our efforts and thanks to patients who accept this new form of clinical experimentation with oncologists, doctors and clinical researchers, will Rome be able to contribute to the development of an MTB Network on a national level. The active sharing of tools, resources, methodologies and the possibility of consulting them on-line will allow us to make rapid and significant progress and concretely ensure that every patient receives the right drug and a custom-tailored treatment based on his/her molecular profile.”