Thursday, December 1

An unprecedented case: the woman who has survived 12 tumors | Digital Trends Spanish

A true case study is being reviewed in the scientific community in Madrid, it is about a woman who has managed to survive 12 cancerous tumors, 5 of them malignant, The first cancer it was detected when he was two and the last one at 28. Each one has been of a different type and in a different part of the body. The person also has spots on the skin, microcephaly and other alterations.

The patient’s immune system naturally generates a strong anti-inflammatory response that fights tumors.

According to Marcos Malumbres, head of the Cell Division and Cancer Group at the National Cancer Research Center (CNIO), «we still do not understand how this individual could have developed during the embryonic stagenor could he have overcome all these pathologies ».

According to Malumbres, the study of this unique case opens “a way to detect cells with tumor potential long before clinical tests and diagnostic imaging. It also provides a novel way to stimulate the immune response to a cancerous process.”

The results of the investigation, published this Wednesday in Science Advances, reveal that this unique case is due to a genetic mutation that has never been observed in humans. This woman had inherited from each of her parents a mutated copy of the gene MAD1L1.

The few scientific references that existed about mutations in this gene came from studies with mice: if the animal had it, it was never able to be born alive.

As the newspaper El País maintains, “the key to this woman’s survival seems to lie in her own illness. Up to 40% of her blood cells have too many or too few chromosomes, a type of defect known as genomic instability, which is an unmistakable mark of cancer. The patient’s immune system had reacted to this threat with widespread inflammation. Her defenses were on continuous red alert. Her mutation condemned her to suffer from cancer much more frequently, but her immune system was highly stimulated, which favored her better identification and destruction of tumor cells, explains the CNIO biochemist Caroline Villarroya, first author of the study. “His genetic defect of hers has ended up protecting her. She has been cured very well of all malignant tumors after surgery and treatments; partly thanks to her immune system,” she explains. In addition, this woman’s tumors have a very high genomic instability, which is “a weak point” for her survival, adds the scientist ».

Based on this finding, the researchers propose in their article that single-cell analysis can be used to identify cells with tumor potential long before the appearance of clinical symptoms or observable markers in laboratory tests.

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