“Unity is strength”. We often say this, but rarely do we put it into practice. In Italy, creating a system and creating synergies between different realities is not always easy. And yet, working as a team by counting on the collaboration of multiple people and sharing knowledge to achieve a common goal can make a huge difference in so many sectors. He is convinced of it Luca Mazzarella, coordinator of the Working Group of Genomics and Informatics of Alleanza Contro il Cancro (Acc, the National Oncological Network founded by the Ministry of Health in 2002), which is based at the European Institute of Oncology (Ieo) in Milan. Mazzarella is also responsible for Unic, a project that brings together 16 of the 28 Irccs associated with Acc and makes use of the collaboration of the National Institute of Nuclear Physics (Infn), with the aim of pooling clinical data, skills and the experiences of research institutes to understand the mutations of some of the most complex rare cancers. “Our activity within Acc – explains Mazzarella – has served to implement both very advanced molecular analysis methodologies and easily interoperable sustainable technologies. All this now allows us to better understand the origin of extremely rare pathologies “.
Unique
To succeed in this aim, the working group has faithfully followed the popular proverb from which we started, and has leveraged the strengths of each center involved in the project, connecting institutes in possession of a large amount of information, equipped with the most sophisticated molecular analysis technologies and structures well supplied with both data and advanced sequencing technologies. The Infn, thanks to a centralized platform, analyzes the information collected and transfers it to institutes for the identification and molecular characterization of tumors.
“The strength of this project lies in having available not only a numerically large number of cases (40 or 50 cases to be analyzed is already an exceptional number for this type of pathology) – underlines the coordinator – but also very precise clinical information on patients followed. for a long time within the same institution, for example how many and which therapies they underwent, how the diagnosis was made, or how long they survived. Data of this kind are very important, because they associate a value to the genetic information that derives from our analysis. Many of the studies on the origin of these tumors, in fact, do not present such a thorough clinical characterization “.
Five rare cancers
Here are the rare cancers that were included in the project at the beginning of 2021. Their choice depended on the existence of sufficient case studies to start a work of data analysis, on the poor prognosis and on the complexity in dealing with them.
Breast angiosarcoma
It is a tumor that is little known and accounts for less than 1% of breast cancers. It affects patients already suffering from the disease, because it develops after courses of radiotherapy administered to treat a previous disease, such as breast cancer or lymphoma. Some cases are managed fairly well by surgery, while others are difficult to treat because they are identified when they are already in an advanced stage. Of the cancers under study, breast angiosarcoma is the one the researchers are hoping to find the most information about.
Merkel cell tumors
It is a very aggressive skin cancer that occurs especially in the head and neck areas and can give rise to metastases that greatly complicate the patient’s prognosis. In recent years, progress has been made in treatment with immunotherapy, but not all patients respond and the prognosis is generally poor.
Cholangiocarcinomas
These are cancers of the biliary tract, a subtle disease that does not give symptoms so clear and alarming as to prompt those who suffer from it to seek immediate medical attention. Cases of cholangiocarcinoma are on the rise all over the world, in Italy there are an estimated 5,400 in 2020. The diagnosis is not the simplest and in terms of therapies in recent years no great progress has been made.
Thymic tumors
The thymus is a small organ located behind the breastbone and is essential for the immune system. Tumors of the thymic gland can spread to surrounding tissues and organs, such as the lungs and pleura. The causes and risk factors are still unknown.
Neuroendocrine tumors
They are tumors that originate from neuroendocrine cells, that is the cells present throughout the body and important for regulating, for example, the flow of air in the lungs, the speed of transit of food in the gastrointestinal tract or the release of gastric juices in the ‘intestine. They can affect organs as diverse as the pancreas, lungs, intestines, thyroid, thymus, or adrenal glands. In this type of cancer there is a big difference between the very aggressive high-grade ones and the less dangerous low-grade ones. The reason for this diversity is not yet clear.
Old approach, new challenges
For more frequent oncological diseases, such as those of the lung, breast and colon, the study approach through network structures has served to improve the understanding of mutations and to identify more sophisticated treatments and diagnostics than a few years ago. Unic researchers, therefore, are confident and hope to achieve the same results for rare cancers as well. Due to the GDPR on privacy, one of the most complicated aspects to manage is the exchange of data. “Many of the efforts made to put the project together – explains Mazzarella – have been used to generate a data exchange platform to allow us to carry out these activities in compliance with the law and guaranteeing the protection of information”.
The next steps
Now the group is about to finish analyzing the data and will soon be taking stock of the work done. The results will serve both to define a genomic classification of breast angiosarcomas and to understand the mutations and the response of tumors to specific treatments, for example immunotherapy for Merkel cell tumors. “Rare tumors – concludes Ruggero De Maria, President of Acc – need to be studied and treated through adequate network structures, because it is essential to share experiences and test new clinical protocols”.