By Dr. Virginia Ferraresi

Tumors are for definition considered rare when incidence is less than 6 cases in 100.000 people per year, but altogether rare tumors account for approximately 25%, of all cancers (approximately 18% solid rare cancers and 7% rare hematological diseases). Rare tumors are almost invariably associated with 5-year overall survival rates globally less than 50% as compared to 65% in common cancers. This overall worse prognosis is substantially linked to the limited medical expertise and the lack of evidence-based treatment guidelines that ultimately result from low frequency with scanty tissue banks and registries, few clinical trials, misdiagnosis (both clinical and pathological) and delayed diagnosis, all of which are serious obstacles to clinical decisions.

The estimates of incidence, prevalence and survival of rare cancers in Italy are based on the pool of the AIRTUM cancer registries (years 2000-2010) and it was estimated that about 360.000 people were diagnosed with new cancers in Italy in 2011, with an annual incidence rate of about 200 rare cancers per 100,000 corresponding to about 89,0000 new diagnoses annually.

With a yearly admittance of 1,000 new cases and 3,000 total patients being followed per year, IRCCS Regina Elena represents one recognized center for the diagnosis and treatment of rare solid tumors.

Over the past 10 years, IFO played an active role in the collaborative efforts of the national network on rare tumors (Rete Tumori Rari, RTR). Since 2016 IFO are involved in EURACAN (EUropean network for Rare Adult solid CANcer) and have become a European Referral Center for eight rare tumors (soft tissue, viscerae and bone sarcomas, rare neoplasm of the male genital organs, and of the urinary tract, neuroendocrine tumors, rare neoplasm if the digestive tract, rare neoplasm of endocrine organs, rare neoplasm of the thorax, rare neoplasm of the skin and eye melanoma, rare neoplasm of the brain and spinal cords). Main objectives of EURACAN are to improve the quality of care of all European patients affected with rare cancers enabling a major improvement in the access to centers of excellence for diagnosis and treatment and unifying the availability of optimal clinical practices in the EU by centralizing knowledge and experience, medical research, training, and resources. A European Collaborative Platform and a Clinical Patient Management System (CPMS) are actually in development in order to discuss and to share clinical cases of patients with rare tumors all over the European centers of the network. In 2019, IFO domain leaders have been involved in virtual meetings and asked to participate in panel of experts

Our Institute is actively involved in International collaboration and revision of specific guidelines of various type of rare tumors and is engaged in national and international clinical trials. Since 2018, the Rare Tumors Translational Group has been participating in the European trial ARCAGEN (EORTC-SPECTA) whose aim is to perform a molecular characterization of rare cancers on retrospective and prospective biological samples. Retrospective cases have been collected and the accrual of prospective cases is actively ongoing.

In 2020, IRE became one of the 9 EURACAN and OECI Italian national cancer institutes of project Rarity. The project is sponsored and funded by Alliance Against Cancer (ACC) and aims at initiating the Italian part of the EURACAN registry (STARTER project).

Clinical cases of rare tumors having access to our institute are discussed in meeting, scheduled on weekly or biweekly basis, by dedicated multidisciplinary disease management teams in order to assure an adequate clinical, radiological and pathological assessment leading to a correct diagnosis and an appropriate treatment inside or outside national or international experimental trials.

A dedicated group of data managers is actively involved in the prospective registration of all case of rare tumors accessing to our Institute on a database including all relevant clinical information and follow up updates. For some rare tum or s (for example soft tissue and bone sarcomas) a regular process of institutional biobanking of blood and pathologic specimens is ongoing.

In 2020, integrate care pathways in rare tumors have been further elaborated in order to assure timely taking charge of the patients. In order to facilitate the access of patients with rare tumors and diseases and to offer them dedicated diagnostic and therapeutic pathways, in December 2020 a helpdesk has been activated. It is coordinated by a doctor, a nurse and an administrative employee and will guide patients through paths that can facilitate quick access to facilities dedicated to individual rare tumors.

Increasing emphasis is moreover given to the collaboration with basic researchers to identify, as for more common cancers, molecular diagnostic, prognostic or predictive biomarkers and regular translational meetings, under the supervision of our Scientific Direction, are organized on bimonthly basis.

Finally, in June 2020 a departmental Unit on Sarcomas and Rare Tumors was activated. The unit is specifically addressed to the diagnosis, clinical management and translational research in patients with sarcoma and will be responsible for coordinating the activities on Rare Tumors in the Institute and in the EURACAN project.

The EURACAN distribution