We have now learned to live with tumors, but sometimes we hear about rare tumors and often associate this definition with the “oddity” of the tumor. In reality, rare tumors are not at all particular; they are just found less frequently than other forms of cancer.

What a rare tumor is and how it works

A rare tumor is defined as a form of cancer that affects fewer than 6 in 100,000 people per year. It seems like very few cases, but if we consider that there are 198 rare tumors and that they represent 24% of all new cases, and they affect about five million (5,000,000) people in Europe and nine hundred thousand (900,000) in Italy, then we immediately understand that they’re rare if considered case-by-case, but are very frequent (1 out of 4) if taken together.

Rare tumors are typically epithelial tumors (i.e. those cells that cover an organ such as prostate, breast, trachea).

The underlying problem with rare tumors is that they are infrequent and do not receive government investment such as with other tumors, so there are few clinical trials and pharmaceutical companies invest little for obvious reasons. Moreover, Doctors, even specialists, know little about them, as they rarely encounter them and therefore identifying a rare tumor through symptoms is difficult and time-consuming, valuable time away from the patient. Finally, regulatory obstacles also arise with respect to the marketing authorization of new drugs, a process that requires data from studies on a significant number of patients; a number that is difficult to achieve at the level of individual countries.

For all of these reasons, although rare tumors are no more dangerous than others, they are associated with a five-year survival of 55% compared with 68% survival of the most frequently-found tumors.

What is the research suggesting?

The European Commission, in Luxembourg in 2016, launched a new initiative for collective action on rare cancers: the Joint Action on Rare Cancers (JARC). It involves 18 countries, and Italy is represented by the National Cancer Institute in Milan. The aim is to keep the focus on the study and treatment of rare cancers, so that patients with these cancers don’t become second-class patients.

The UK was the first in Europe (in 2014) to launch a large project called Genomics England, a project that studies, through the complete sequencing of the Human Genome, tumors, including rare tumors and rare diseases. Five years after the start of the initiative, the UK Government recently announced that the first one hundred thousand (100,000) patients have been sequenced, and that the information collected will be used to improve the UK’s National Health System (NHS).

How can the research be accelerated?

It’s clear from what’s been written a few lines above, that the fundamental obstacle is the low numbers which affect the statistical significance and consequently the cost-effectiveness of the study and therapy.

As far as the study methodology is concerned, new study tools are being sought, better-suited to the lower numbers, and capable of providing sufficient evidence on the safety and efficacy of a drug. Artificial Intelligence could be of help, and certainly the possibility to share data, (at least at the European level) to increase the number of patients.

As far as the approval process of a drug is concerned, a simplified approach is being adopted for rare cancers, which allows for the speeding-up of the process, but it exposes patients to the risk of unforeseeable side-effects. However, when one is suffering from a rare tumor, the thought does not go to the fact that the drug may cause damage, but rather to the fact that the safest drug is one that no one can afford — or that it arrives too late — is of no benefit to the patient.

Doing nothing runs the risk that no patient wishes to run, and time is the number one enemy for those with a rare and severe disease.

This post is also available in: Italiano

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