This is an exceptional case reported by Spanish doctors. A 36-year-old woman survived 12 tumors, 5 of which were malignant. This means that cancer cells proliferate and can spread to other parts of the body. This patient, whose identity has not been revealed, was the subject of a study in the journal Science Advances. Her story dates back to 2015. At that time, she met Dr. Miguel Urioste, who leads the family unit at the National Cancer Research Center (CNIO) in Madrid. The reason ? She has already undergone 5 cancer treatments to treat tumors located in different organs, as well as operations to remove other non-cancerous malformations.
According to the details of the doctors, the young woman is small and suffers from microcephaly [when a baby’s head is smaller than normal, editor’s note]. However, she has no intellectual delay or family history that could explain these multiple cancers. To try to see more clearly, CNIO scientists are analyzing its genes to identify common mutations, known to increase the risk of tumors. The results are not conclusive. They therefore use single cell sequencing, a molecular biology technology that allows the exploration of the genetic information of the patient and her relatives. A test that pays off! They discover that the Spaniard has a mutated version of the MAD1L1 gene, inherited from her parents. An unprecedented and usually fatal genetic mutation in mice.
A discovery that revives the hope of curing cancer
If we are to believe the conclusions of the researchers, the 30-year-old survived her tumors thanks to a deregulation. Some of his cells have inherited too many chromosomes and others have received far fewer. This genomic instability, which is a characteristic of cancer, has led to an overstimulation of its immune system allowing better identification and destruction of tumor cells. “Her genetic defect ended up protecting her. She recovered very well from all the malignant tumors after the surgery and the treatments; partly thanks to her immune system” explained Carolina Villarroya, lead author of the study and biochemist at the CNIO, to the newspaper El País.
Although the patient has not developed new tumors since 2014, she continues to be closely monitored by doctors. For good reason, his extraordinary case could make it possible to identify the first stages of cancer and eliminate them. What lead to the development of new treatments likely to cure the disease.