07 November 2022

A unique patient

A woman from Spain has had cancer five times and survived. This could lead to new ways to treat cancer

Anna Novikovskaya, Naked Science

One woman living in Spain had a bad health from birth: in early childhood, she was first diagnosed with a cancerous tumor, then every few years a new sore "came out", which disappeared by itself after a while. In just less than four decades, 12 neoplasms appeared in the woman's body, of which at least five were malignant.

No other person would have survived such a large number of tumors of different types in different parts of the body: even if the body or doctors were able to cope with, say, carcinoma, sarcoma would surely finish off the weakened body. However, this incredible woman has survived all the hardships that have befallen her and, despite a number of congenital pathologies like microcephaly, lives a relatively normal life.

To understand why the patient has such incredible resistance to cancer, researchers from the National Center for Cancer Research (Spain) studied a blood sample taken from a woman, seeking to find "breakdowns" in the genes most often associated with hereditary cancer.

Surprisingly, they did not identify any, but they found something more interesting: a mutation in the MAD1L1 gene, which in our body is responsible for proper cell division. In the case of a "breakdown" of this gene, aneuploid cells containing the "wrong" number of chromosomes appear. In particular, in almost a third of all blood cells, the patient had not 46 chromosomes, as in ordinary people, but one chromosome less or more. 

Like almost any other gene, MAD1L1 is represented in our body by two copies, one of which came from the father, the second from the mother. In animal models, scientists have found that the "breakdown" of two copies of genes at once leads to the death of the organism at the embryo stage. However, in front of them sat a completely living woman who had mutated both MAD1L1 genes, "gifting" her with both terrible vulnerability and amazing resistance to malignant tumors.

The researchers suggest that constantly encountering cells with the wrong number of chromosomes, the woman's body was always in a state of "full combat readiness", so the appearance of another "wrong" cell — cancer — led to an overaggressive immune reaction, which destroyed the nascent tumor.

Although the experience of an amazing patient is hardly useful to other people who have at least one MAD1L1 gene in order, the fact that a chronically active immune system is able to destroy cells with an abnormal number of chromosomes is an important discovery that may lead to new ways of treating cancer. Since aneuploidy is characteristic of cancer cells, in the future scientists will be able to develop a way to "incite" the patient's immunity against them so that the body can cope with the dangerous disease itself.

The study was published in the journal Science Advances (Villarroya-Beltri et al., Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility).

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