The importance of knowing how to read genes. The pancreatic cancer of Laura Rosi, 38, from Siena, has now disappeared thanks to an in-depth reading of the DNA. “Her cancer – he explains Davide Melissa, professor at the University of Verona and researcher of AIRC (Italian Association for Cancer Research) – had a very rare mutation at the base: that of the Ret gene. It is the first time in Italy that we have observed a pancreatic tumor associated with a mutation of this gene ”.
Fortuna (at least for Rosi) however wants a Ret mutation to be very common in thyroid cancer. And that it also has a cure already tested and fully available. “We treated Laura’s pancreatic cancer with a drug normally used for thyroid cancer,” Melisi explains. “The therapy worked. The patient had a complete response ”. That is, the tumor has disappeared for the moment.
The experimentation of a new cure
For Rosi, who had arrived in Verona with what the doctor defines as “a very severe prognosis” and “an already very compromised clinical situation”, the treatment represented a return to life. “We tend to be very cautious in using the word healing, though,” warns Melisi. “We hope that the answer is also lasting”.
Already for the first time, two years ago, the hope of recovery was shattered against the news of the return of the disease. “Then – recalls Melisi – we treated the woman with an experimental drug, developed by us in Verona thanks to the support of Airc, which increases the effectiveness of chemotherapy. Her name is Tgf-beta inhibitor. The response had been great, but after two years the cancer had returned. It was then that we decided to proceed with the complete sequencing of the genome with the latest generation devices. And we noticed the very rare mutation on the Ret gene ”.
The gene counts, not the affected organ
The story of Laura Rosi is the demonstration that a Copernican revolution has taken place in recent years in the treatment of cancer: what matters is not the affected organ, but the gene that is at the origin of the disease. “Pancreas or thyroid doesn’t count,” Melisi explains. “If the mutation is in the Ret gene, the drug to use will be the one for the Ret gene.”
The young woman’s recovery also demonstrates the strength of personalized medicine. “It was only by reading the entire genome of Rosi’s cancer cells that we became aware of that mutation. We used a technique that unfortunately is not yet available to everyone, but only within some experiments ”.
Airc research that saves lives
“It is very important that research is financially supported – adds the professor – because it can save lives in practice. And it is very important that patients with rare and particular forms of cancer go to centers where the trials take place. This is the only way to obtain new therapies, not yet available elsewhere “.
In the Research Week in which Airc talks about its initiatives and raises funds to find new treatments, Rosi’s story demonstrates how science can restore hope even in the face of a difficult tumor like that of the pancreas.