Survived 12 different cancers, five of which were malignant. The incredible case of a 36-year-old Spanish woman was described in the journal Science Advances by researchers from the National Cancer Research Center (Cnio) in Spain. All the cancers were caused by a mix of inherited genetic mutations that were thought to be incompatible with life.
A study that could pave the way for new early diagnosis techniques and new therapies to awaken the immune system against cancer.
“We still do not understand how this person could have developed during the embryonic stage or how he managed to overcome all his diseases.”, says Cnio biologist Marcos Malumbres.
A story that left the doctors and researchers themselves speechless. The woman developed her own first tumor already in childhood, several others followed after a few years from each other. In 36 years of life, he has been diagnosed with 12 in various parts of the body, five of which are malignant.
Once she arrived at the CNIO Research Center, she underwent sequencing of the genes that are usually involved in hereditary forms of cancer, but no mutations were found. The whole genome was then sequenced and this is how anomalies emerged in a gene crucial for cell division: this is the MAD1L1 gene, whose mutation involves the alteration of the number of chromosomes inherited from daughter cells (a condition typical of many cancers). The patient had mutated both the copy of the gene received from the mother and the one transmitted from the father: one condition never encountered in the world and which, when reproduced in laboratory animals, caused death already in the embryonic stage.
One thing that surprised the researchers was that the 5 malignant tumors all disappeared relatively easily. It is hypothesized that “the continuous production of altered cells generated in the patient a chronic defense response against these cells which helped the tumors to disappear”.
And it is precisely the discovery that the immune system is able to unleash a defense against cells with an altered number of chromosomes one of the most important aspects of this study, “which could open new therapeutic options for the futureconsidering that 70% of tumors have anomalies in the number of chromosomes ”.
To study the woman, Spanish researchers used a technology that allows them to analyze thousands of blood cells individually, one by one, to evaluate the genes that are turned on. Technique that allows to detect the rapid proliferation of cells that could signal the development of a tumor thus making it diagnosable before the appearance of symptoms or changes in clinical examinations.
(Unioneonline / L)
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