A woman in Spain has survived 12 tumors due to a strange genetic mutation

In a strange case, a woman in Spain has battled 12 tumors in her body. The first tumor developed in this woman’s body when she was still a baby, and the other tumors formed within five years after that. A total of twelve tumors have developed in the body of this 36-year-old woman, at least five of which have been reported to be malignant, and each one is a unique type that has affected a different area of ​​her body. Researchers have shared interesting information about this woman’s tumors by carefully examining this case.

When the patient first visited the CNIO Familial Cancer Clinical Unit to sequence the genes often associated with hereditary cancer, a blood sample was taken, but no changes were found in these genes.

The strange case of this woman’s cancer

After a comprehensive genomic analysis of the subject, the researchers discovered something strange. The woman had a unique mutation that predisposed her to cancer. He had a mutation in both copies of the MAD1L1 gene, which has never been seen in humans.

The MAD1L1 gene helps align the chromosomes before the cell divides. It was also previously thought that MAD1L1 plays an important role in suppressing tumors. The researchers then studied his family members using a single-cell analysis technique and found that several of them also had mutations in the MAD1L1 gene, but only in one copy.

In this woman, the mutation disrupted cell replication and created cells with different numbers of chromosomes. About 30 to 40 percent of his blood cells had an abnormal number of chromosomes.

Marcos Malobers, Director of the Cell Division and Cancer Group of the Spanish National Cancer Research Center (CNIO) says:

“We still don’t know how this particular case could have formed in the embryonic stage, and how it managed to overcome all these injuries.”

Malobers claims that research on this particular case provides a way to detect cells with cancer potential before clinical trials and diagnostic imaging. In addition, it provides a new way to stimulate the body’s immune response to a malignant process.

Miguel Uriost, who headed the CNIO’s Familial Cancer Clinical Unit until his retirement in January this year, explains:

“So far, no other case like this has been reported. “Academically, we can’t talk about a new syndrome because it’s a single case description, but biologically it’s true.”

He continues:

“Other genes whose mutation alters the number of chromosomes in cells are known, but this one varies because of its aggressiveness, the amount of disruption it causes, and its extreme sensitivity to a large number of different tumors.”

One of the things that caught the most attention of the research team was that five of the patient’s malignant tumors disappeared with incredible speed. Malobers explains about this:

“Continuous production of altered cells creates a chronic immune response in the patient against these cells and helps tumors disappear. “We think that boosting the immune response of other patients will help them stop tumor development.”

According to the researchers, the study shows that people with aneuploidy (more or less number of chromosomes), like this woman, have an “enhanced immune response,” which could provide new opportunities for clinical management of these patients.

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