Person who survived 12 tumors at the study center

The story of a patient who lived through a dozen tumors in less than 40 years adds new insights into the body’s immune response, according to researchers who studied this exceptional case.

In a study published in the journal Science Advances in November, researchers from Spain’s National Cancer Research Center (CNIO) examined an individual who first developed a tumor when he was still only a baby and has been growing for a few years.

At least five of the 12 tumors developed were malignant and each was of a different type and found in different parts of the body.

« We still do not understand how this individual was able to develop at the embryonic stage, or overcome all these pathologies, » said Marcos Malumbres, head of the Cell Division and Cancer Group at the CNIO, in a press release.

Malumbres says the study opens up « a way to detect cells with tumor potential long before clinical testing and diagnostic imaging. It also provides a new way to stimulate the immune response to a cancerous process. »

The researchers say a blood sample was taken from the patient to sequence the genes found most often in hereditary cancer, but no alterations were detected.

But it was after the researchers looked at the person’s entire genome that they found mutations in a gene called MAD1L1, which is necessary for cell division and proliferation.

The researchers found that the mutations cause alterations in the number of chromosomes in a cell, of which humans have 23 pairs.

Animals with mutations in both copies of this gene die in the embryo. But the researchers say that despite this mutation, the patient survived.

“Academically, we cannot speak of a new syndrome because it is the description of a single case, but biologically it is,” said Miguel Urioste, co-author of the study and former head of the family cancer clinical unit of the CNIO.

The researchers say the patient’s five most aggressive cancers disappeared relatively easily.

« The constant production of altered cells generated a chronic defensive response in the patient against these cells, and this helps the tumors to die out. We believe that stimulating the immune response of other patients would help them stop tumor development, » said Malumbres. .

Given that 70% of human tumors have cells with an abnormal number of chromosomes, Malumbres says finding that the immune system can defend against these cell types is « one of the most important aspects of this study, which could open up new therapeutic options in the future. »

The scientists used single-cell analysis technology to study the patient and related family members, several of whom have mutations in the MAD1L1 gene but in a single copy.

The process involved analyzing each blood cell in a sample separately.

The researchers say the sample contained several hundred chromosomally identical lymphocytes, a white blood cell involved in the body’s immune system, which can overgrow and spread to form a tumour.

Because this proliferation occurs in the early stages of cancer, the researchers suggest this type of analysis could be used to identify tumors much earlier.