From the lack of treatments to the complexity of research, rare tumors “add the difficulties of a rare disease to the complexity of an oncological disease and in various cases we are dealing with ultra-rare forms, such as in the case of cardiac angiosarcoma which led to the death of the young Sofia Sacchitelli. The key to the future lies above all in international collaboration». This was underlined to ANSA by Ornella Gonzato, president of ‘Trust Paola Gonzato Sarcoma Network onlus’, who has been committed for years to spreading knowledge of these rare forms of cancer, also asking for greater commitment at an institutional level.
Cardiac angiosarcoma, 2-3 cases per million inhabitants
A tumor is defined as rare, explains Gonzato, when it registers an average of 5-6 cases per 100,000 inhabitants. However, it is 25% of all tumors and sarcomas alone represent a family that has over 100 different types. «In the case of cardiac angiosarcoma that struck Sofia – says Gonzato – it is a tumor that falls into the category of ultra rare, which record 2-3 cases for every million inhabitants. It is easy to understand, therefore, how crucial both research and above all international collaboration is to intercept the largest possible number of patients worldwide, because given their small number it is very difficult to be able to proceed with clinical trials that give concrete hope for advancement in terms of new therapies. This is the great effort we are making globally».
Research
Furthermore, the overall low number of patients affected by these rare forms «are not – he notes – an incentive to invest in the research or development of targeted drugs. Currently, there are reference guidelines, but when we talk about very rare cancers, even these are insufficient”. Therefore, according to Gonzato, a «greater commitment at an institutional level is urgently needed: recently, the European Plan against cancer has been integrated with a part concerning rare tumors, to attract international attention. In Italy, the national network for rare tumors is starting up and the reference centers where sarcomas are treated have been identified, but the network needs to be launched effectively also by providing ad hoc funding. We therefore ask – he concludes – for an alignment with the European Plan and funds dedicated to the research and management of patients with these neoplasms”.
Bassetti: “Have a nice trip Doctor”
«Sofia Sacchitelli, a medical student of our university who was very young by a very rare heart tumor, has died. Sofia has fought against this evil also trying to raise public awareness on the issue of rare diseases. You had also founded, together with others, the “Sofia nel cuore” association for a social commitment and scientific research on this issue. Sofia was an example of courage and strength, as well as an attachment to scientific and medical values. Have a nice trip Sofia…indeed (even if fate has deprived you of this earthly joy) Have a nice trip Doctor…illuminate the research and study of rare diseases from up there…», wrote Professor Matteo Bassetti, director of the infectious disease clinic of the San Martino Polyclinic Hospital in Genoa.