This rare case of genetic mutation gives the patient a special immune system that fights tumors. Researchers believe that understanding how it does this will help boost the immune systems of other people.
An international team of researchers led by the Spanish National Cancer Research Center (CNIO) has discovered the exceptional story of a 36-year-old woman, who had already developed twelve tumors of different types. Each tumor was located in a different part of the body and at least five of them were malignant. For example, she was diagnosed with cervical cancer at the age of 15 and a salivary gland tumor at the age of 20. We still do not understand how this patient was able to develop during the embryonic stage, nor how she was able to overcome all these pathologies.“It’s a question of es,” says Marcos Malumbres, a molecular biologist and co-author of the new study published in Science Advances.
Why such sensitivity to cancer?
To understand this woman’s case, researchers took blood samples and used single-cell DNA sequencing to examine mutations throughout her genomegenomeResult: she had a mutation in both copies of the embarrassedembarrassed MAD1L1, which is unique. In mice, carrying such a mutation is fatal.
It should be noted that the MAD1L1 gene is involved in cell division and proliferation, and is also suspected of playing a role in tumor suppression. If each cell in our body normally has 23 pairs of chromosomeschromosomesthis woman’s case is different. In fact, the gene mutation caused a dysfunction of the replicationreplication cellular and therefore a different number of chromosomes. This person is affected by a rare sicknessrare sickness called ” aneuploidyaneuploidy “varied mosaic,” in which there are varying numbers of chromosomes in different cells, as found most commonly in cancer cells.
Why did the tumors disappear?
What makes this case unique is the rejection of the tumors each time. The researchers hypothesize that ” The constant production of altered cells has generated in the patient a chronic defensive response against these cells, and this helps the tumors disappear. We think that stimulating the immune response of other patients would help them stop the development tumortumor “. The faculty of immune systemimmune system to trigger a reinforced defensive response represents an interesting therapeutic avenue in the fight against cancers.
Furthermore, the single-cell analysis used in this study could allow for an earlier diagnosis of cancer. The technique involves analyzing the genes of each blood cell, one by one. Carolina Villarroya-Beltri, a researcher at CNIO and co-author of the study, explains: ” By analyzing thousands of these cells separately, we can study what is happening in each specific cell, and what the consequences of these changes are in the patient. “This method would make it possible to visualize the early stages of cancer by identifying cells with tumor potential, and this before the appearance of symptomssymptoms clinical or markers in analytical tests.
